A4G (p.Ala4Gly) variant of JAK2 (Tyrosine-protein kinase JAK2)
A4G (p.Ala4Gly) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A4G (p.Ala4Gly) variant details
- p.Ala4Gly
- ExAC rs773675185
- TOPMed rs773675185
- gnomAD rs773675185
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.30
- AlphaMissense 0.19
- MetaLR 0.62
- MetaSVM 0.25
- CADD 23.60
- PolyPhen-2 0.98
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available