G32C (p.Gly32Cys) variant of PSTPIP1 (O43586)
G32C (p.Gly32Cys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- gnomAD 15-77018205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- MetaLR 0.20
- MetaSVM -0.58
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292
- Literature evidence available