G32A (p.Gly32Ala) variant of PSTPIP1 (O43586)
G32A (p.Gly32Ala) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G32A (p.Gly32Ala) variant details
- p.Gly32Ala
- rs557528832
- gnomAD 15-76995464-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 16.40
- SIFT 0.33
- Most common in the East Asian population (allele frequency 7.7e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.292
- Literature evidence available