E40K (p.Glu40Lys) variant of KCNQ3 (O43525)
E40K (p.Glu40Lys) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- gnomAD rs1190468863
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.10
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available