R14W (p.Arg14Trp) variant of PSTPIP1 (O43586)
R14W (p.Arg14Trp) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14W (p.Arg14Trp) variant details
- p.Arg14Trp
- gnomAD 15-77018151-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.05
- MetaSVM -1.09
- CADD 27.60
- PolyPhen-2 0.66
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available