R1368C (p.Arg1368Cys) variant of ABCA4 (P78363)
R1368C (p.Arg1368Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R1368C (p.Arg1368Cys) variant details
- p.Arg1368Cys
- rs1183074086
- ClinGen CA341286798
- ClinVar RCV001953886
- ClinVar RCV003331250
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Stargardt disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.86
- MetaLR 0.88
- MetaSVM 0.94
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Stargardt disease)
- EBI: Pathogenic (in CORD3)
- UniProt: Pathogenic (in CORD3)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)