N96H (p.Asn96His) variant of ABCA4 (P78363)
N96H (p.Asn96His) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe early-childhood-onset retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N96H (p.Asn96His) variant details
- p.Asn96His
- rs61748529
- ClinGen CA227041
- ClinVar RCV000085514
- ClinVar RCV005400423
- Pathogenic/Likely pathogenic
- not provided; Severe early-childhood-onset retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.04
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe early-childhood-onset retinal dystrophy)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)
- Cited in: Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. (PMID 19265867)