A2T (p.Ala2Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
A2T (p.Ala2Thr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs2147701252
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- AlphaMissense 0.16
- MetaLR 0.34
- MetaSVM -0.62
- CADD 22.40
- PolyPhen-2 0.68
- Population evidence available
- Structural context available