A347T (p.Ala347Thr) variant of IDH2 (P48735)
A347T (p.Ala347Thr) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A347T (p.Ala347Thr) variant details
- p.Ala347Thr
- rs767061831
- ClinGen CA274658556
- cosmic curated COSV10940
- ClinVar RCV001028040
- Likely pathogenic
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.62
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (D-2-hydroxyglutaric aciduria 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available