L40L (p.Leu40Leu) variant of RHO (Rhodopsin)
L40L (p.Leu40Leu) in RHO (Rhodopsin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs759209103
- gnomAD 3-129528851-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 10.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available