E30K (p.Glu30Lys) variant of KCNA2 (P16389)
E30K (p.Glu30Lys) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- TOPMed rs1649520263
- gnomAD rs1649520263
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.57
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available