C182R (p.Cys182Arg) variant of SCN5A (Q14524)
C182R (p.Cys182Arg) in SCN5A (Q14524) 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 0.88 / 1. The record also includes published literature and structural context.
C182R (p.Cys182Arg) variant details
- p.Cys182Arg
- rs199473066
- ClinGen CA019232
- ClinVar RCV000058781
- ClinVar RCV004546427
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- 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: Brugada Syndrome. (PMID 20301690)