G58V (p.Gly58Val) variant of APOL1 (Apolipoprotein L1)
G58V (p.Gly58Val) 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 0.13 / 1. The record also includes population frequency data and structural context.
G58V (p.Gly58Val) variant details
- p.Gly58Val
- ExAC rs759271800
- TOPMed rs759271800
- gnomAD rs759271800
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.12
- CADD 11.60
- PolyPhen-2 0.61
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available