E71D (p.Glu71Asp) variant of SLC22A8 (Organic anion transporter 3)
E71D (p.Glu71Asp) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
E71D (p.Glu71Asp) variant details
- p.Glu71Asp
- TOPMed rs1383064459
- gnomAD rs1383064459
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- MetaLR 0.17
- MetaSVM -0.94
- CADD 9.06
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available