H106L (p.His106Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
H106L (p.His106Leu) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
H106L (p.His106Leu) variant details
- p.His106Leu
- Ensembl rs2101215219
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available