R8K (p.Arg8Lys) variant of APOL1 (Apolipoprotein L1)
R8K (p.Arg8Lys) in APOL1 (Apolipoprotein L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- rs769299217
- ClinGen CA10208464
- cosmic curated COSV59868
- ClinVar RCV001944069
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.06
- CADD 12.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.053)
- Structural context available