G3V (p.Gly3Val) variant of ABCG8 (Q9H221)
G3V (p.Gly3Val) 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.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- ExAC rs778143236
- TOPMed rs778143236
- gnomAD rs778143236
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.22
- CADD 11.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available