E11K (p.Glu11Lys) variant of KCNJ11 (Q14654)
E11K (p.Glu11Lys) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs542961309
- gnomAD rs542961309
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.52
- AlphaMissense 0.29
- MetaLR 0.59
- MetaSVM 0.30
- CADD 28.40
- PolyPhen-2 0.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available