L48H (p.Leu48His) variant of JAK1 (Tyrosine-protein kinase JAK1)
L48H (p.Leu48His) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L48H (p.Leu48His) variant details
- p.Leu48His
- ExAC rs779004397
- gnomAD rs779004397
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.39
- CADD 27.10
- PolyPhen-2 0.88
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available