L68F (p.Leu68Phe) variant of OPA1 (O60313)
L68F (p.Leu68Phe) in OPA1 (O60313) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- Ensembl rs2108864990
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.48
- CADD 18.20
- Most common in the 1KG:STU population (allele frequency 0.37)
- Structural context available