L35L (p.Leu35Leu) variant of OPA1 (O60313)
L35L (p.Leu35Leu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L35L (p.Leu35Leu) variant details
- p.Leu35Leu
- gnomAD 3-193614793-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 9.50
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available