E12A (p.Glu12Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
E12A (p.Glu12Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- gnomAD 9-5022022-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.44
- AlphaMissense 0.12
- MetaLR 0.23
- MetaSVM -0.62
- CADD 20.30
- PolyPhen-2 0.61
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available