M19I (p.Met19Ile) variant of JAK1 (Tyrosine-protein kinase JAK1)
M19I (p.Met19Ile) in JAK1 (Tyrosine-protein kinase JAK1) 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.
M19I (p.Met19Ile) variant details
- p.Met19Ile
- TOPMed rs994046985
- gnomAD rs994046985
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available