A18A (p.Ala18Ala) variant of APOL1 (Apolipoprotein L1)
A18A (p.Ala18Ala) in APOL1 (Apolipoprotein L1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs767548013
- gnomAD 22-36257092-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0984
- CADD 2.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available