E120G (p.Glu120Gly) variant of IDH2 (P48735)
E120G (p.Glu120Gly) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E120G (p.Glu120Gly) variant details
- p.Glu120Gly
- Ensembl rs2151551220
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.70
- CADD 26.80
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available