M101V (p.Met101Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
M101V (p.Met101Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
M101V (p.Met101Val) variant details
- p.Met101Val
- TOPMed rs1320163960
- gnomAD rs1320163960
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available