L50L (p.Leu50Leu) variant of OPA1 (O60313)
L50L (p.Leu50Leu) in OPA1 (O60313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs1254486828
- gnomAD 3-193614840-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 6.77
- Population evidence available
- Structural context available
- Literature evidence available