V66M (p.Val66Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
V66M (p.Val66Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V66M (p.Val66Met) variant details
- p.Val66Met
- TOPMed rs992942163
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available