D38Y (p.Asp38Tyr) variant of PSTPIP1 (O43586)
D38Y (p.Asp38Tyr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- gnomAD 15-77018223-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.26
- MetaSVM -0.60
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.061
- Literature evidence available