G2A (p.Gly2Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
G2A (p.Gly2Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- gnomAD 9-5021992-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.22
- AlphaMissense 0.11
- MetaLR 0.38
- MetaSVM -0.62
- CADD 13.00
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available