PolyPhen-2 prediction of functional effects of human nsSNPs

PolyPhen-2 report for P09651 N319S

Query

Protein AccPositionAA1AA2Description
P09651319NSCanonical; RecName: Full=Heterogeneous nuclear ribonucleoprotein A1; Short=hnRNP A1; AltName: Full=Helix-destabilizing protein; AltName: Full=Single-strand RNA-binding protein; AltName: Full=hnRNP core protein A1; Length: 372

Results

Prediction/Confidence  PolyPhen-2 v2.2.2r398

HumDiv

This mutation is predicted to be benign with a score of 0.276 (sensitivity: 0.91; specificity: 0.88)

Confidence

HumVar

This mutation is predicted to be benign with a score of 0.042 (sensitivity: 0.93; specificity: 0.62)

Confidence

Details

Multiple sequence alignment  UCSC MultiZ46Way GRCh37/hg19 (08-Oct-2009)
3D Visualization  PDB/DSSP Snapshot 03-Jan-2012 (78304 Structures)