G32R (p.Gly32Arg) variant of PSTPIP1 (O43586)
G32R (p.Gly32Arg) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- gnomAD 15-76995463-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 17.70
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292
- Literature evidence available