R2030Q (p.Arg2030Gln) variant of ABCA4 (P78363)
R2030Q (p.Arg2030Gln) 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.
R2030Q (p.Arg2030Gln) variant details
- p.Arg2030Gln
- rs61750641
- ClinGen CA227366
- ClinVar RCV000085787
- ClinVar RCV000178545
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.86
- MetaLR 0.85
- MetaSVM 0.85
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Pathogenic (in STGD1 and FFM)
- UniProt: Pathogenic (in STGD1 and FFM)
- Population evidence available
- 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: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)