D46G (p.Asp46Gly) variant of APOL1 (Apolipoprotein L1)
D46G (p.Asp46Gly) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- 1000Genomes rs144963144
- ESP rs144963144
- ExAC rs144963144
- TOPMed rs144963144
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.11
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0059)
- Structural context available