K98R (p.Lys98Arg) variant of KCNQ3 (O43525)
K98R (p.Lys98Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial neonatal, 2; Benign neonatal seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K98R (p.Lys98Arg) variant details
- p.Lys98Arg
- rs143194379
- ClinGen CA4880981
- ClinVar RCV000497536
- ClinVar RCV002527131
- Uncertain significance
- Seizures, benign familial neonatal, 2; Benign neonatal seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Seizures, benign familial neonatal, 2; Benign neonatal seizures;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ3-Related Disorders. (PMID 24851285)