L4L (p.Leu4Leu) variant of OPA1 (O60313)
L4L (p.Leu4Leu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD 3-193593387-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available