A74V (p.Ala74Val) variant of JAK3 (Tyrosine-protein kinase JAK3)
A74V (p.Ala74Val) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A74V (p.Ala74Val) variant details
- p.Ala74Val
- Ensembl rs2147700122
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.50
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available