V46G (p.Val46Gly) variant of IDH2 (P48735)
V46G (p.Val46Gly) in IDH2 (P48735) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V46G (p.Val46Gly) variant details
- p.Val46Gly
- TOPMed rs1418340668
- gnomAD rs1418340668
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.79
- CADD 29.50
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available