A15V (p.Ala15Val) variant of ABCG8 (Q9H221)
A15V (p.Ala15Val) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs942518094
- gnomAD 2-43832618-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 4.72
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Literature evidence available