T17A (p.Thr17Ala) variant of PSTPIP1 (O43586)
T17A (p.Thr17Ala) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- gnomAD 15-77018160-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.13
- MetaSVM -0.99
- CADD 21.70
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.324
- Literature evidence available