R20* (p.Arg20Ter) variant of IDH1 (O75874)
R20* (p.Arg20Ter) in IDH1 (O75874) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R20* (p.Arg20Ter) variant details
- p.Arg20Ter
- rs912110895
- TOPMed rs912110895
- gnomAD rs912110895
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available