R330H (p.Arg330His) variant of KCNQ3 (O43525)
R330H (p.Arg330His) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Benign neonatal seizures; KCNQ3-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R330H (p.Arg330His) variant details
- p.Arg330His
- rs1162306056
- ClinGen CA372290153
- NCI-TCGA Cosmic COSV6646
- cosmic curated COSV66465
- Pathogenic/Likely pathogenic
- Benign neonatal seizures; KCNQ3-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Benign neonatal seizures; KCNQ3-related disorder; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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: KCNQ3-Related Disorders. (PMID 24851285)