L47L (p.Leu47Leu) variant of RHO (Rhodopsin)
L47L (p.Leu47Leu) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs1257389194
- gnomAD 3-129528872-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 9.37
- Population evidence available
- Structural context available
- Literature evidence available