E66A (p.Glu66Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
E66A (p.Glu66Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E66A (p.Glu66Ala) variant details
- p.Glu66Ala
- ExAC rs757639029
- gnomAD rs757639029
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.65
- AlphaMissense 0.24
- MetaLR 0.44
- MetaSVM -0.29
- CADD 24.00
- PolyPhen-2 0.19
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available