R572Q (p.Arg572Gln) variant of ABCA4 (P78363)
R572Q (p.Arg572Gln) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R572Q (p.Arg572Gln) variant details
- p.Arg572Gln
- rs61748559
- ClinGen CA226918
- ClinVar RCV000008357
- ClinVar RCV000085416
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Population evidence available
- Structural context available
- Cited in: Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and… (PMID 10746567)
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)