R14S (p.Arg14Ser) variant of PSTPIP1 (O43586)
R14S (p.Arg14Ser) 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.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- rs867293179
- gnomAD 15-76995421-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 9.98
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available