R785G (p.Arg785Gly) variant of ABCA4 (P78363)
R785G (p.Arg785Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R785G (p.Arg785Gly) variant details
- p.Arg785Gly
- rs781254854
- ClinGen CA958296
- ClinVar RCV000478565
- ClinVar RCV006458392
- Pathogenic/Likely pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- MetaLR 0.28
- MetaSVM -0.60
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available