R20L (p.Arg20Leu) variant of IDH1 (O75874)
R20L (p.Arg20Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- rs201258988
- ClinGen CA2079109
- ClinVar RCV004052551
- 1000Genomes rs201258988
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.81
- CADD 28.00
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available