G79V (p.Gly79Val) variant of ABCG5 (Q9H222)
G79V (p.Gly79Val) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- gnomAD rs1668379427
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 23.70
- Population evidence available
- Structural context available