V50M (p.Val50Met) variant of IDH2 (P48735)
V50M (p.Val50Met) 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 0.66 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs201999104
- ClinGen CA7733268
- cosmic curated COSV57473
- ClinVar RCV003075253
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.73
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available