A52G (p.Ala52Gly) variant of JAK2 (Tyrosine-protein kinase JAK2)
A52G (p.Ala52Gly) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A52G (p.Ala52Gly) variant details
- p.Ala52Gly
- gnomAD 9-5022142-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- AlphaMissense 0.05
- MetaLR 0.11
- MetaSVM -1.08
- CADD 9.86
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available