L46L (p.Leu46Leu) variant of RHO (Rhodopsin)
L46L (p.Leu46Leu) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- gnomAD 3-129528871-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 8.96
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available