Q13R (p.Gln13Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q13R (p.Gln13Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- TOPMed rs200860180
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.28
- CADD 17.30
- PolyPhen-2 0.24
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available