L50V (p.Leu50Val) variant of JAK1 (Tyrosine-protein kinase JAK1)
L50V (p.Leu50Val) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- TOPMed rs1570701475
- gnomAD rs1570701475
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.09
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available