A10T (p.Ala10Thr) variant of PSTPIP1 (O43586)
A10T (p.Ala10Thr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- gnomAD 15-76995601-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- MetaLR 0.10
- MetaSVM -0.96
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.36
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.178
- Literature evidence available