L59F (p.Leu59Phe) variant of RHO (Rhodopsin)
L59F (p.Leu59Phe) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L59F (p.Leu59Phe) variant details
- p.Leu59Phe
- rs777849735
- ClinGen CA2607075
- ClinVar RCV002003246
- ExAC rs777849735
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.75
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available