G58E (p.Gly58Glu) variant of SLC22A8 (Organic anion transporter 3)
G58E (p.Gly58Glu) in SLC22A8 (Organic anion transporter 3) 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 0.13 / 1. The record also includes population frequency data and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- 1000Genomes rs201611920
- ExAC rs201611920
- TOPMed rs201611920
- gnomAD rs201611920
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.03
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available