S445R (p.Ser445Arg) variant of ABCA4 (P78363)
S445R (p.Ser445Arg) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S445R (p.Ser445Arg) variant details
- p.Ser445Arg
- TOPMed rs1269417340
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.82
- MetaLR 0.70
- MetaSVM 0.49
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)