S21R (p.Ser21Arg) variant of ABCG8 (Q9H221)
S21R (p.Ser21Arg) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S21R (p.Ser21Arg) variant details
- p.Ser21Arg
- rs1475754258
- gnomAD 2-43832595-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0527
- CADD 1.53
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available