R14H (p.Arg14His) variant of PSTPIP1 (O43586)
R14H (p.Arg14His) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs1200264724
- gnomAD 15-76995422-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 10.70
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available