E71K (p.Glu71Lys) variant of SLC22A8 (Organic anion transporter 3)
E71K (p.Glu71Lys) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- cosmic curated COSV60324
- ExAC rs748490019
- TOPMed rs748490019
- gnomAD rs748490019
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.23
- MetaLR 0.40
- MetaSVM -0.15
- CADD 21.00
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available