E1087D (p.Glu1087Asp) variant of ABCA4 (P78363)
E1087D (p.Glu1087Asp) 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 dystrophy; not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E1087D (p.Glu1087Asp) variant details
- p.Glu1087Asp
- rs61752416
- ClinGen CA227098
- ClinVar RCV000085563
- ClinVar RCV000408551
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.09
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Severe early-childhood-onset re)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular… (PMID 10958763)
- Cited in: Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt… (PMID 39128720)