N935D (p.Asn935Asp) variant of ABCA1 (O95477)
N935D (p.Asn935Asp) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tangier disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N935D (p.Asn935Asp) variant details
- p.Asn935Asp
- rs28937314
- ClinGen CA16043668
- ClinVar RCV000415392
- Ensembl rs28937314
- Likely pathogenic
- Tangier disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- MetaLR 0.84
- MetaSVM 0.90
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Tangier disease)
- EBI: Pathogenic (in TGD)
- UniProt: Pathogenic (in TGD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Tangier Disease. (PMID 31751110)