S21P (p.Ser21Pro) variant of ABCG8 (Q9H221)
S21P (p.Ser21Pro) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- gnomAD 2-43832638-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 8.17
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available