G27E (p.Gly27Glu) variant of ABCG5 (Q9H222)
G27E (p.Gly27Glu) in ABCG5 (Q9H222) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- 1000Genomes rs56204478
- ESP rs56204478
- ExAC rs56204478
- TOPMed rs56204478
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 1.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available