D119E (p.Asp119Glu) variant of ABCA1 (O95477)
D119E (p.Asp119Glu) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D119E (p.Asp119Glu) variant details
- p.Asp119Glu
- rs763744498
- ClinGen CA374316018
- ClinVar RCV002021548
- ClinVar RCV003331275
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.55
- MetaLR 0.80
- MetaSVM 0.48
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available