R212C (p.Arg212Cys) variant of ABCA4 (P78363)
R212C (p.Arg212Cys) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R212C (p.Arg212Cys) variant details
- p.Arg212Cys
- rs61750200
- ClinGen CA203216
- ClinVar RCV000008355
- ClinVar RCV000085812
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.85
- MetaLR 0.86
- MetaSVM 0.87
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1 and CORD3)
- UniProt: Pathogenic (in STGD1 and CORD3)
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. (PMID 10711710)
- Cited in: Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. (PMID 10958761)