L50L (p.Leu50Leu) variant of RHO (Rhodopsin)
L50L (p.Leu50Leu) 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.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 3-129528881-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 9.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available