G818E (p.Gly818Glu) variant of ABCA4 (P78363)
G818E (p.Gly818Glu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G818E (p.Gly818Glu) variant details
- p.Gly818Glu
- rs61750202
- ClinGen CA227000
- ClinVar RCV000085479
- ClinVar RCV000787774
- Pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- MetaLR 0.85
- MetaSVM 0.92
- CADD 26.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (ABCA4-related retinopathy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence… (PMID 23419329)
- Cited in: Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. (PMID 33375396)