R33S (p.Arg33Ser) variant of PSTPIP1 (O43586)
R33S (p.Arg33Ser) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- gnomAD 15-77018210-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- MetaLR 0.06
- MetaSVM -1.13
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.163
- Literature evidence available