R653C (p.Arg653Cys) variant of ABCA4 (P78363)
R653C (p.Arg653Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R653C (p.Arg653Cys) variant details
- p.Arg653Cys
- rs61749420
- ClinGen CA226965
- ClinVar RCV000085452
- ClinVar RCV000408546
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.85
- MetaLR 0.85
- MetaSVM 0.82
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)