G818A (p.Gly818Ala) variant of ABCA4 (P78363)
G818A (p.Gly818Ala) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G818A (p.Gly818Ala) variant details
- p.Gly818Ala
- rs61750202
- ClinGen CA341277056
- ClinVar RCV002469936
- ExAC rs61750202
- Pathogenic
- Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- MetaLR 0.85
- MetaSVM 0.92
- CADD 24.90
- SIFT 0.03
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available