D9G (p.Asp9Gly) variant of PSTPIP1 (O43586)
D9G (p.Asp9Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- gnomAD 15-76994797-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 2.09
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.41
- Literature evidence available