R1232W (p.Arg1232Trp) variant of SCN5A (Nav1.5)
R1232W (p.Arg1232Trp) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1232W (p.Arg1232Trp) variant details
- p.Arg1232Trp
- rs199473207
- ClinGen CA017416
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10034
- Pathogenic
- Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.45
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Brugada syndrome 1)
- EBI: Pathogenic (in BRGDA1 and PFHB1A)
- UniProt: Pathogenic (in BRGDA1 and PFHB1A)
- Population evidence available
- Structural context available
- Cited in: Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. (PMID 10618304)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)