D38V (p.Asp38Val) variant of PSTPIP1 (O43586)
D38V (p.Asp38Val) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D38V (p.Asp38Val) variant details
- p.Asp38Val
- gnomAD rs2076089606
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- MetaLR 0.28
- MetaSVM -0.48
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.061