R20G (p.Arg20Gly) variant of IDH1 (O75874)
R20G (p.Arg20Gly) 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 0.61 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs912110895
- ClinGen CA64590158
- ClinVar RCV004054240
- TOPMed rs912110895
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.74
- CADD 25.10
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available