N79S (p.Asn79Ser) variant of KCNQ2 (O43526)
N79S (p.Asn79Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N79S (p.Asn79Ser) variant details
- p.Asn79Ser
- rs2516743649
- ClinVar RCV004566517
- Uncertain significance
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.59
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.17
- ClinVar: Uncertain significance (Seizures, benign familial neonatal, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)