L28* (p.Leu28Ter) variant of OPA1 (O60313)
L28* (p.Leu28Ter) in OPA1 (O60313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L28* (p.Leu28Ter) variant details
- p.Leu28Ter
- Ensembl rs867942002
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 35.00
- Most common in the HGDP:MBUTI population (allele frequency 0.96)
- Structural context available