R2106C (p.Arg2106Cys) variant of ABCA4 (P78363)
R2106C (p.Arg2106Cys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA4-related retinopathy; Severe early-childhood-onset retinal dystrophy; Cone. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R2106C (p.Arg2106Cys) variant details
- p.Arg2106Cys
- rs61750648
- ClinGen CA227388
- cosmic curated COSV64673
- ClinVar RCV000085806
- Pathogenic/Likely pathogenic
- ABCA4-related retinopathy; Severe early-childhood-onset retinal dystrophy; Cone
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.89
- MetaLR 0.96
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA4-related retinopathy; Severe early-childhood-onset retinal)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR… (PMID 11379881)
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)