V8A (p.Val8Ala) variant of IDH2 (P48735)
V8A (p.Val8Ala) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of D-2-hydroxyglutaric aciduria 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs369445642
- ClinGen CA7733298
- cosmic curated COSV57478
- ClinVar RCV000676986
- Conflicting interpretations
- D-2-hydroxyglutaric aciduria 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.10
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (D-2-hydroxyglutaric aciduria 2; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.017)
- Structural context available