G3V (p.Gly3Val) variant of IDH2 (P48735)
G3V (p.Gly3Val) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- ExAC rs754014307
- TOPMed rs754014307
- gnomAD rs754014307
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.50
- CADD 22.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available