N1800H (p.Asn1800His) variant of ABCA1 (O95477)
N1800H (p.Asn1800His) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCA1-related disorder; Cardiovascular phenotype; Hypoalphalipoproteinemia, prim. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N1800H (p.Asn1800His) variant details
- p.Asn1800His
- rs146292819
- ClinGen CA5167833
- ClinVar RCV000277325
- ClinVar RCV001093093
- Pathogenic/Likely pathogenic
- ABCA1-related disorder; Cardiovascular phenotype; Hypoalphalipoproteinemia, prim
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.88
- MetaLR 0.75
- MetaSVM 0.66
- CADD 28.10
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCA1-related disorder; Cardiovascular phenotype; Hypoalphalipop)
- EBI: Pathogenic (in TGD)
- UniProt: Pathogenic (in TGD)
- Most common in the Non-Finnish European population (allele frequency 0.00065)
- Structural context available
- Cited in: Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. (PMID 10706591)
- Cited in: Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. (PMID 15019541)