K4N (p.Lys4Asn) variant of KCNQ2 (O43526)
K4N (p.Lys4Asn) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- rs776223064
- ClinGen CA9958905
- ClinVar RCV000413696
- ClinVar RCV001550541
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.41
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available