R8I (p.Arg8Ile) variant of APOL1 (Apolipoprotein L1)
R8I (p.Arg8Ile) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R8I (p.Arg8Ile) variant details
- p.Arg8Ile
- 1000Genomes rs769299217
- ExAC rs769299217
- gnomAD rs769299217
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available