V36M (p.Val36Met) variant of JAK1 (Tyrosine-protein kinase JAK1)
V36M (p.Val36Met) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- TOPMed rs1570701650
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the HGDP:KARITIANA population (allele frequency 0.3)
- Structural context available