G6S (p.Gly6Ser) variant of RHO (Rhodopsin)
G6S (p.Gly6Ser) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs145024369
- ClinGen CA2607037
- ClinVar RCV001075304
- ClinVar RCV005093415
- Uncertain significance
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.66
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available