I94S (p.Ile94Ser) variant of SCN5A (Q14524)
I94S (p.Ile94Ser) 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 0.79 / 1. The record also includes published literature and structural context.
I94S (p.Ile94Ser) variant details
- p.Ile94Ser
- rs199473053
- ClinGen CA016537
- ClinVar RCV000058530
- UniProt VAR 074317
- not provided
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.84
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.31
- 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)