R330C (p.Arg330Cys) variant of KCNQ3 (O43525)
R330C (p.Arg330Cys) 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; not provided; Seizures, benign familial neonatal, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R330C (p.Arg330Cys) variant details
- p.Arg330Cys
- rs118192251
- ClinGen CA342043
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- Pathogenic/Likely pathogenic
- Benign neonatal seizures; not provided; Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Benign neonatal seizures; not provided; Seizures, benign familia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions. (PMID 18249525)
- Cited in: Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case. (PMID 23146207)