C36G (p.Cys36Gly) variant of PSTPIP1 (O43586)
C36G (p.Cys36Gly) 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, and structural context.
C36G (p.Cys36Gly) variant details
- p.Cys36Gly
- TOPMed rs938956023
- gnomAD rs938956023
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- MetaLR 0.16
- MetaSVM -0.78
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0433