E5K (p.Glu5Lys) variant of SLC22A8 (Organic anion transporter 3)
E5K (p.Glu5Lys) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- cosmic curated COSV60325
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.37
- MetaLR 0.36
- MetaSVM -0.26
- CADD 24.10
- PolyPhen-2 0.64
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available