L39V (p.Leu39Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
L39V (p.Leu39Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- gnomAD 9-5022102-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.48
- AlphaMissense 0.22
- MetaLR 0.57
- MetaSVM 0.10
- CADD 23.80
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available