L59L (p.Leu59Leu) variant of RHO (Rhodopsin)
L59L (p.Leu59Leu) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L59L (p.Leu59Leu) variant details
- p.Leu59Leu
- rs747002188
- gnomAD 3-129528910-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 8.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available