R52* (p.Arg52Ter) variant of OPA1 (O60313)
R52* (p.Arg52Ter) in OPA1 (O60313) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R52* (p.Arg52Ter) variant details
- p.Arg52Ter
- rs1560327427
- ClinGen CA355786617
- ClinVar RCV001093271
- ClinVar RCV004813759
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available