G2R (p.Gly2Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
G2R (p.Gly2Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- ExAC rs772421530
- gnomAD rs772421530
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- AlphaMissense 0.49
- MetaLR 0.43
- MetaSVM -0.52
- CADD 20.20
- PolyPhen-2 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available