L65L (p.Leu65Leu) variant of OPA1 (O60313)
L65L (p.Leu65Leu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L65L (p.Leu65Leu) variant details
- p.Leu65Leu
- rs762167113
- gnomAD 3-193614885-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.89
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Literature evidence available