N1868I (p.Asn1868Ile) variant of ABCA4 (P78363)
N1868I (p.Asn1868Ile) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N1868I (p.Asn1868Ile) variant details
- p.Asn1868Ile
- rs1801466
- ClinGen CA202869
- cosmic curated COSV10746
- ClinVar RCV000085744
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.40
- MetaLR 0.73
- MetaSVM 0.66
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:ORCADIAN population (allele frequency 0.14)
- 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: Biochemical defects in ABCR protein variants associated with human retinopathies. (PMID 11017087)