A178G (p.Ala178Gly) variant of SCN5A (Q14524)
A178G (p.Ala178Gly) in SCN5A (Q14524) is a missense change. The available record places it in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
A178G (p.Ala178Gly) variant details
- p.Ala178Gly
- rs199473065
- ClinGen CA019140
- ClinVar RCV000058772
- UniProt VAR 074327
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 0.48
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: not provided (Brugada syndrome)
- 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)