A60T (p.Ala60Thr) variant of JAK3 (Tyrosine-protein kinase JAK3)
A60T (p.Ala60Thr) 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.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- ExAC rs780157263
- gnomAD rs780157263
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available