G3A (p.Gly3Ala) variant of ABCG8 (Q9H221)
G3A (p.Gly3Ala) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- ExAC rs778143236
- TOPMed rs778143236
- gnomAD rs778143236
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.22
- CADD 4.97
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available