W309R (p.Trp309Arg) variant of KCNQ3 (O43525)
W309R (p.Trp309Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W309R (p.Trp309Arg) variant details
- p.Trp309Arg
- rs118192249
- ClinGen CA342042
- ClinVar RCV000020601
- UniProt VAR 010935
- Pathogenic
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.97
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 2)
- EBI: Pathogenic (in BFNS2)
- UniProt: Pathogenic (in BFNS2)
- Population evidence available
- Structural context available
- Cited in: A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. (PMID 10852552)
- Cited in: KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and… (PMID 14534157)