D33E (p.Asp33Glu) variant of ABCG8 (Q9H221)
D33E (p.Asp33Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs746154054
- ClinGen CA346663133
- ClinVar RCV003301859
- ExAC rs746154054
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.50
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available