H1838D (p.His1838Asp) variant of ABCA4 (P78363)
H1838D (p.His1838Asp) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of ABCA4-related disorder; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
H1838D (p.His1838Asp) variant details
- p.His1838Asp
- rs62642562
- ClinGen CA227313
- ClinVar RCV000085734
- ClinVar RCV000408577
- Pathogenic
- ABCA4-related disorder; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.91
- MetaLR 0.81
- MetaSVM 0.80
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Stargardt disease)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420… (PMID 23755871)
- Cited in: Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease. (PMID 24457364)