R943W (p.Arg943Trp) variant of ABCA4 (P78363)
R943W (p.Arg943Trp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related disorder; not provided; Stargardt disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R943W (p.Arg943Trp) variant details
- p.Arg943Trp
- rs61749446
- ClinGen CA227037
- ClinVar RCV000085510
- ClinVar RCV001074959
- Pathogenic/Likely pathogenic
- ABCA4-related disorder; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.69
- MetaLR 0.75
- MetaSVM 0.23
- CADD 23.30
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related disorder; not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR… (PMID 11379881)
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)