W2* (p.Trp2Ter) variant of OPA1 (O60313)
W2* (p.Trp2Ter) 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 0.87 / 1. The record also includes population frequency data and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- rs2474395788
- ClinGen CA355785440
- ClinVar RCV003482780
- ClinVar RCV004818357
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available