A18S (p.Ala18Ser) variant of PSTPIP1 (O43586)
A18S (p.Ala18Ser) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 15-77018163-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- MetaLR 0.03
- MetaSVM -1.03
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.644
- Literature evidence available