G58D (p.Gly58Asp) variant of APOL1 (Apolipoprotein L1)
G58D (p.Gly58Asp) 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. 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.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- ExAC rs759271800
- TOPMed rs759271800
- gnomAD rs759271800
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.10
- CADD 0.53
- PolyPhen-2 0.02
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available