R1843W (p.Arg1843Trp) variant of ABCA4 (P78363)
R1843W (p.Arg1843Trp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1843W (p.Arg1843Trp) variant details
- p.Arg1843Trp
- rs62642576
- ClinGen CA227316
- cosmic curated COSV10093
- ClinVar RCV000085736
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.91
- MetaLR 0.79
- MetaSVM 0.80
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. (PMID 33375396)
- Cited in: Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt… (PMID 9973280)