A22V (p.Ala22Val) variant of IDH2 (P48735)
A22V (p.Ala22Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs770871840
- ClinGen CA7733290
- ClinVar RCV002034001
- ExAC rs770871840
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.13
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available