D1532N (p.Asp1532Asn) variant of ABCA4 (P78363)
D1532N (p.Asp1532Asn) 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; Severe early-childhood-onset retinal dystrophy; Age related m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D1532N (p.Asp1532Asn) variant details
- p.Asp1532Asn
- rs62642574
- ClinGen CA227219
- ClinVar RCV000085657
- ClinVar RCV000177510
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.77
- MetaLR 0.90
- MetaSVM 0.90
- CADD 27.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available
- Cited in: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. (PMID 11527935)
- Cited in: CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular… (PMID 23972322)