A79T (p.Ala79Thr) variant of JAK1 (Tyrosine-protein kinase JAK1)
A79T (p.Ala79Thr) in JAK1 (Tyrosine-protein kinase JAK1) 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.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- Ensembl rs2101217319
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.41
- CADD 25.70
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available