Q61* (p.Gln61Ter) variant of OPA1 (O60313)
Q61* (p.Gln61Ter) in OPA1 (O60313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q61* (p.Gln61Ter) variant details
- p.Gln61Ter
- gnomAD rs1448611948
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.55)
- Structural context available