L59R (p.Leu59Arg) variant of RHO (Rhodopsin)
L59R (p.Leu59Arg) 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 0.85 / 1. The record also includes structural context.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- rs2108749238
- ClinGen CA354496062
- ClinVar RCV001754606
- Ensembl rs2108749238
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available