D71E (p.Asp71Glu) variant of ABCG5 (Q9H222)
D71E (p.Asp71Glu) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar 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 0.07 / 1. The record also includes population frequency data and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- ExAC rs774338179
- TOPMed rs774338179
- gnomAD rs774338179
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0692
- CADD 2.27
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available