A47V (p.Ala47Val) variant of IDH2 (P48735)
A47V (p.Ala47Val) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs201173543
- ClinGen CA7733273
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57480
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available