R14L (p.Arg14Leu) variant of PSTPIP1 (O43586)
R14L (p.Arg14Leu) in PSTPIP1 (O43586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs764052990
- gnomAD 15-76995421-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.25
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available