E76K (p.Glu76Lys) variant of SLC22A6 (Q4U2R8)
E76K (p.Glu76Lys) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- ExAC rs758725291
- gnomAD rs758725291
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -0.82
- CADD 14.20
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available