E14K (p.Glu14Lys) variant of SLC22A2 (O15244)
E14K (p.Glu14Lys) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- TOPMed rs1220789527
- gnomAD rs1220789527
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- CADD 18.10
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available