G22C (p.Gly22Cys) variant of ABCG8 (Q9H221)
G22C (p.Gly22Cys) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- gnomAD 2-43832656-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 10.90
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available