K42E (p.Lys42Glu) variant of KCNQ3 (O43525)
K42E (p.Lys42Glu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K42E (p.Lys42Glu) variant details
- p.Lys42Glu
- gnomAD rs1440264080
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.31
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available