A5A (p.Ala5Ala) variant of ABCG8 (Q9H221)
A5A (p.Ala5Ala) in ABCG8 (Q9H221) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs200951677
- gnomAD 2-43839068-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 2.73
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available