V38F (p.Val38Phe) variant of APOL1 (Apolipoprotein L1)
V38F (p.Val38Phe) 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 0.17 / 1. The record also includes population frequency data and structural context.
V38F (p.Val38Phe) variant details
- p.Val38Phe
- 1000Genomes rs200488315
- ExAC rs200488315
- TOPMed rs200488315
- gnomAD rs200488315
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.13
- CADD 0.77
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available