T75M (p.Thr75Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
T75M (p.Thr75Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T75M (p.Thr75Met) variant details
- p.Thr75Met
- cosmic curated COSV10151
- ExAC rs745933382
- gnomAD rs745933382
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.38
- CADD 21.10
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available