G3E (p.Gly3Glu) variant of ABCG8 (Q9H221)
G3E (p.Gly3Glu) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- ExAC rs778143236
- TOPMed rs778143236
- gnomAD rs778143236
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.26
- CADD 1.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available