S21N (p.Ser21Asn) variant of ABCG8 (Q9H221)
S21N (p.Ser21Asn) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- gnomAD 2-43832651-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0923
- CADD 5.21
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available