R1108C (p.Arg1108Cys) variant of ABCA4 (P78363)
R1108C (p.Arg1108Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R1108C (p.Arg1108Cys) variant details
- p.Arg1108Cys
- rs61750120
- ClinGen CA220683
- ClinVar RCV000078665
- ClinVar RCV000150052
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.89
- MetaLR 0.92
- MetaSVM 1.01
- CADD 29.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. (PMID 10206579)
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)