G21A (p.Gly21Ala) variant of PSTPIP1 (O43586)
G21A (p.Gly21Ala) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- gnomAD 15-76994815-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0629
- CADD 2.79
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471
- Literature evidence available