V24M (p.Val24Met) variant of PSTPIP1 (O43586)
V24M (p.Val24Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- gnomAD 15-77018181-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.30
- PolyPhen-2 0.28
- SIFT 0.08
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.621
- Literature evidence available