C182R (p.Cys182Arg) variant of SCN5A (Nav1.5)
C182R (p.Cys182Arg) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
C182R (p.Cys182Arg) variant details
- p.Cys182Arg
- rs199473066
- UniProt VAR 074328
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.93
- MetaSVM 1.06
- CADD 26.30
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. (PMID 10532948)