R14R (p.Arg14Arg) variant of PSTPIP1 (O43586)
R14R (p.Arg14Arg) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- gnomAD 15-76994801-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.78
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available