S10F (p.Ser10Phe) variant of APOL1 (Apolipoprotein L1)
S10F (p.Ser10Phe) 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 0.08 / 1. The record also includes population frequency data and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs199650512
- ClinGen CA10208467
- cosmic curated COSV59869
- ClinVar RCV002918944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0815
- REVEL 0.10
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.065)
- Structural context available