S21I (p.Ser21Ile) variant of ABCG8 (Q9H221)
S21I (p.Ser21Ile) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S21I (p.Ser21Ile) variant details
- p.Ser21Ile
- rs912404677
- gnomAD 2-43832594-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0706
- CADD 3.67
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available
- Literature evidence available