E31A (p.Glu31Ala) variant of ABCG8 (Q9H221)
E31A (p.Glu31Ala) 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 0.66 / 1. The record also includes population frequency data and structural context.
E31A (p.Glu31Ala) variant details
- p.Glu31Ala
- rs1474416976
- ClinGen CA346663092
- ClinVar RCV002371509
- gnomAD rs1474416976
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.68
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available