S21G (p.Ser21Gly) variant of ABCG8 (Q9H221)
S21G (p.Ser21Gly) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S21G (p.Ser21Gly) variant details
- p.Ser21Gly
- gnomAD 2-43832650-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 7.52
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available