A57S (p.Ala57Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
A57S (p.Ala57Ser) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- cosmic curated COSV71686
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.42
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available