G1748R (p.Gly1748Arg) variant of ABCA4 (P78363)
G1748R (p.Gly1748Arg) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G1748R (p.Gly1748Arg) variant details
- p.Gly1748Arg
- rs61753025
- ClinGen CA227290
- ClinVar RCV000085714
- ClinVar RCV006456699
- Pathogenic/Likely pathogenic
- not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.61
- MetaLR 0.64
- MetaSVM 0.13
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.33
- ClinVar: Pathogenic/Likely pathogenic (not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt… (PMID 18977788)