N96D (p.Asn96Asp) variant of ABCA4 (P78363)
N96D (p.Asn96Asp) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N96D (p.Asn96Asp) variant details
- p.Asn96Asp
- rs61748529
- ClinGen CA227042
- ClinVar RCV000085515
- ClinVar RCV000986376
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Severe early-childhood-onset retinal dystrophy; Age related m
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- MetaLR 0.99
- MetaSVM 1.08
- CADD 24.30
- PolyPhen-2 0.31
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Severe early-childhood-onset retinal dystroph)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)