L4V (p.Leu4Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
L4V (p.Leu4Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- gnomAD rs1298453909
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.25
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available