E46K (p.Glu46Lys) variant of SLC12A1 (Q13621)
E46K (p.Glu46Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- 1000Genomes rs549854027
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.52
- MetaLR 0.11
- MetaSVM -0.98
- CADD 23.00
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available