T17S (p.Thr17Ser) variant of PSTPIP1 (O43586)
T17S (p.Thr17Ser) 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.
T17S (p.Thr17Ser) variant details
- p.Thr17Ser
- gnomAD 15-77018160-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- MetaLR 0.19
- MetaSVM -0.76
- CADD 24.00
- PolyPhen-2 0.46
- SIFT 0.05
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.324
- Literature evidence available