A64V (p.Ala64Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
A64V (p.Ala64Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- gnomAD 9-5022178-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- AlphaMissense 0.38
- MetaLR 0.22
- MetaSVM -0.69
- CADD 25.20
- PolyPhen-2 0.91
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available