R104G (p.Arg104Gly) variant of SCN5A (Q14524)
R104G (p.Arg104Gly) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R104G (p.Arg104Gly) variant details
- p.Arg104Gly
- rs199473055
- ClinGen CA016827
- ClinVar RCV000058549
- ClinVar RCV000434418
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Population evidence available
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)