R230C (p.Arg230Cys) variant of KCNQ3 (O43525)
R230C (p.Arg230Cys) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Seizures, benign familial infantile, 5; Benign neonatal seizures; KCNQ3-related. 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.
R230C (p.Arg230Cys) variant details
- p.Arg230Cys
- rs796052676
- ClinGen CA315593
- cosmic curated COSV66466
- ClinVar RCV000187968
- Pathogenic/Likely pathogenic
- Seizures, benign familial infantile, 5; Benign neonatal seizures; KCNQ3-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Seizures, benign familial infantile, 5; Benign neonatal seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)