R3* (p.Arg3Ter) variant of OPA1 (O60313)
R3* (p.Arg3Ter) 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 0.58 / 1. The record also includes population frequency data and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs2474395815
- ClinGen CA355785444
- ClinVar RCV002857432
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:OROQEN population (allele frequency 0.12)
- Structural context available