T17K (p.Thr17Lys) variant of PSTPIP1 (O43586)
T17K (p.Thr17Lys) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- gnomAD 15-77018161-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- MetaLR 0.21
- MetaSVM -0.78
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.324
- Literature evidence available