Q13K (p.Gln13Lys) variant of JAK3 (Tyrosine-protein kinase JAK3)
Q13K (p.Gln13Lys) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q13K (p.Gln13Lys) variant details
- p.Gln13Lys
- gnomAD rs201771231
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.31
- CADD 15.90
- PolyPhen-2 0.10
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available