G60A (p.Gly60Ala) variant of JAK2 (Tyrosine-protein kinase JAK2)
G60A (p.Gly60Ala) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- gnomAD 9-5022166-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.28
- AlphaMissense 0.32
- MetaLR 0.22
- MetaSVM -0.71
- CADD 23.70
- PolyPhen-2 0.99
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available