W821R (p.Trp821Arg) variant of ABCA4 (P78363)
W821R (p.Trp821Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
W821R (p.Trp821Arg) variant details
- p.Trp821Arg
- rs61749433
- ClinGen CA227001
- ClinVar RCV000085480
- ClinVar RCV001075705
- Pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.87
- MetaLR 0.64
- MetaSVM 0.54
- CADD 29.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to… (PMID 10396622)
- Cited in: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and… (PMID 10746567)