R8G (p.Arg8Gly) variant of APOL1 (Apolipoprotein L1)
R8G (p.Arg8Gly) in APOL1 (Apolipoprotein L1) is a protein-truncating 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.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs758884541
- gnomAD 22-36254940-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.50
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available
- Literature evidence available