R14T (p.Arg14Thr) variant of PSTPIP1 (O43586)
R14T (p.Arg14Thr) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R14T (p.Arg14Thr) variant details
- p.Arg14Thr
- gnomAD 15-76994809-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 4.25
- SIFT 0.08
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132
- Literature evidence available