A65S (p.Ala65Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
A65S (p.Ala65Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A65S (p.Ala65Ser) variant details
- p.Ala65Ser
- ExAC rs761628399
- gnomAD rs761628399
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.66
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available