L57L (p.Leu57Leu) variant of RHO (Rhodopsin)
L57L (p.Leu57Leu) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs779029199
- gnomAD 3-129528904-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 9.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available