D31Y (p.Asp31Tyr) variant of PSTPIP1 (O43586)
D31Y (p.Asp31Tyr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- gnomAD 15-77018202-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- MetaLR 0.12
- MetaSVM -0.94
- CADD 25.60
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0992
- Literature evidence available