G18A (p.Gly18Ala) variant of RHO (Rhodopsin)
G18A (p.Gly18Ala) 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 population frequency data and structural context.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- rs200946638
- ClinGen CA2607048
- ClinVar RCV002672089
- ExAC rs200946638
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available