E123G (p.Glu123Gly) variant of SLC22A8 (Organic anion transporter 3)
E123G (p.Glu123Gly) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E123G (p.Glu123Gly) variant details
- p.Glu123Gly
- Ensembl rs2135127807
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.21
- MetaLR 0.15
- MetaSVM -0.72
- CADD 32.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available