G23A (p.Gly23Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
G23A (p.Gly23Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- ExAC rs779030695
- gnomAD rs779030695
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- AlphaMissense 0.20
- MetaLR 0.31
- MetaSVM -0.59
- CADD 23.40
- PolyPhen-2 0.88
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available