A31D (p.Ala31Asp) variant of JAK1 (Tyrosine-protein kinase JAK1)
A31D (p.Ala31Asp) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A31D (p.Ala31Asp) variant details
- p.Ala31Asp
- Ensembl rs962905354
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.31
- CADD 15.80
- PolyPhen-2 0.05
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available