R2107C (p.Arg2107Cys) variant of ABCA4 (P78363)
R2107C (p.Arg2107Cys) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R2107C (p.Arg2107Cys) variant details
- p.Arg2107Cys
- rs2297669
- ClinGen CA956906
- cosmic curated COSV64677
- ClinVar RCV000787520
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- 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 0.00021)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. (PMID 23143460)