A2A (p.Ala2Ala) variant of ABCG8 (Q9H221)
A2A (p.Ala2Ala) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs954982677
- gnomAD 2-43839059-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available