S21W (p.Ser21Trp) variant of ABCG8 (Q9H221)
S21W (p.Ser21Trp) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S21W (p.Ser21Trp) variant details
- p.Ser21Trp
- rs897245516
- gnomAD 2-43832639-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 11.30
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available