G21V (p.Gly21Val) variant of PSTPIP1 (O43586)
G21V (p.Gly21Val) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs1262819741
- gnomAD 15-76995425-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 18.50
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471
- Literature evidence available