G23S (p.Gly23Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
G23S (p.Gly23Ser) 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 and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- ExAC rs755035784
- gnomAD rs755035784
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.28
- AlphaMissense 0.16
- MetaLR 0.32
- MetaSVM -0.60
- CADD 24.40
- PolyPhen-2 0.96
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available