R2080W (p.Arg2080Trp) variant of ABCA1 (O95477)
R2080W (p.Arg2080Trp) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R2080W (p.Arg2080Trp) variant details
- p.Arg2080Trp
- rs780321144
- ClinGen CA5167596
- ClinVar RCV004374980
- ExAC rs780321144
- Likely pathogenic
- Tangier disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.06
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Tangier disease; Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available