G550R (p.Gly550Arg) variant of ABCA4 (P78363)
G550R (p.Gly550Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal disorder; ABCA4-related disorder; Retinal dystrophy. 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.
G550R (p.Gly550Arg) variant details
- p.Gly550Arg
- rs61748558
- ClinGen CA226915
- ClinVar RCV000085413
- ClinVar RCV000761253
- Pathogenic/Likely pathogenic
- Retinal disorder; ABCA4-related disorder; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 1.08
- CADD 24.30
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal disorder; ABCA4-related disorder; Retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. (PMID 15192030)