Q3K (p.Gln3Lys) variant of KCNQ2 (O43526)
Q3K (p.Gln3Lys) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- TOPMed rs868642147
- gnomAD rs868642147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.41
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available