R14G (p.Arg14Gly) variant of PSTPIP1 (O43586)
R14G (p.Arg14Gly) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs867293179
- gnomAD 15-76995421-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 9.00
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 4.8e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available