E7D (p.Glu7Asp) variant of ABCG8 (Q9H221)
E7D (p.Glu7Asp) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- rs771255227
- ClinGen CA1636853
- ClinVar RCV000729574
- ClinVar RCV005520341
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.18
- CADD 3.30
- PolyPhen-2 0.02
- SIFT 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available