L59H (p.Leu59His) variant of RHO (Rhodopsin)
L59H (p.Leu59His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
L59H (p.Leu59His) variant details
- p.Leu59His
- rs2108749238
- ClinGen CA354496057
- ClinVar RCV001969487
- Ensembl rs2108749238
- Pathogenic
- 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: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available