R20Q (p.Arg20Gln) variant of IDH1 (O75874)
R20Q (p.Arg20Gln) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glioma susceptibility 1. 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.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- cosmic curated COSV61617
- 1000Genomes rs201258988
- ExAC rs201258988
- TOPMed rs201258988
- Uncertain significance
- Glioma susceptibility 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.59
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (Glioma susceptibility 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available