P23R (p.Pro23Arg) variant of IDH2 (P48735)
P23R (p.Pro23Arg) 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 0.35 / 1. The record also includes population frequency data and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs746881165
- ClinGen CA7733289
- ClinVar RCV002024420
- 1000Genomes rs746881165
- Uncertain significance
- D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.08
- ClinVar: Uncertain significance (D-2-hydroxyglutaric aciduria 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available