V75M (p.Val75Met) variant of IDH2 (P48735)
V75M (p.Val75Met) 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 0.60 / 1. The record also includes population frequency data and structural context.
V75M (p.Val75Met) variant details
- p.Val75Met
- rs956543166
- ClinGen CA274626635
- ClinVar RCV001897577
- TOPMed rs956543166
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.49
- CADD 24.40
- PolyPhen-2 0.28
- SIFT 0.02
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available