D15Y (p.Asp15Tyr) variant of PSTPIP1 (O43586)
D15Y (p.Asp15Tyr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D15Y (p.Asp15Tyr) variant details
- p.Asp15Tyr
- gnomAD 15-77018154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.15
- MetaSVM -0.76
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.187
- Literature evidence available