A4V (p.Ala4Val) variant of JAK2 (Tyrosine-protein kinase JAK2)
A4V (p.Ala4Val) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs773675185
- TOPMed rs773675185
- gnomAD rs773675185
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.37
- AlphaMissense 0.64
- MetaLR 0.62
- MetaSVM 0.28
- CADD 23.60
- PolyPhen-2 0.99
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available