G32D (p.Gly32Asp) variant of PSTPIP1 (O43586)
G32D (p.Gly32Asp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- cosmic curated COSV51205
- gnomAD rs1477578839
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- MetaLR 0.20
- MetaSVM -0.58
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292