R28R (p.Arg28Arg) variant of PSTPIP1 (O43586)
R28R (p.Arg28Arg) in PSTPIP1 (O43586) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R28R (p.Arg28Arg) variant details
- p.Arg28Arg
- gnomAD 15-76995459-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 10.80
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.331
- Literature evidence available