G15R (p.Gly15Arg) variant of IDH1 (O75874)
G15R (p.Gly15Arg) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs2124868302
- ClinGen CA350103150
- ClinVar RCV004278241
- Ensembl rs2124868302
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available