K59N (p.Lys59Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
K59N (p.Lys59Asn) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- Ensembl rs2147700734
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available