R8S (p.Arg8Ser) variant of APOL1 (Apolipoprotein L1)
R8S (p.Arg8Ser) in APOL1 (Apolipoprotein L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 22-36254901-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 6.52
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available