Q78K (p.Gln78Lys) variant of KCNQ2 (O43526)
Q78K (p.Gln78Lys) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q78K (p.Gln78Lys) variant details
- p.Gln78Lys
- TOPMed rs867848081
- gnomAD rs867848081
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.73
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available