N935H (p.Asn935His) variant of ABCA1 (O95477)
N935H (p.Asn935His) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N935H (p.Asn935His) variant details
- p.Asn935His
- rs28937314
- ClinGen CA120487
- ClinVar RCV000010106
- UniProt VAR 037968
- Pathogenic
- Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.90
- MetaLR 0.90
- MetaSVM 1.06
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Tangier disease)
- EBI: Pathogenic (in TGD)
- UniProt: Pathogenic (in TGD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1… (PMID 12111381)
- Cited in: Tangier Disease. (PMID 31751110)