R33M (p.Arg33Met) variant of PSTPIP1 (O43586)
R33M (p.Arg33Met) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R33M (p.Arg33Met) variant details
- p.Arg33Met
- gnomAD 15-77018209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.10
- MetaSVM -1.00
- CADD 25.40
- PolyPhen-2 0.76
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.163
- Literature evidence available