P52S (p.Pro52Ser) variant of SCN5A (Nav1.5)
P52S (p.Pro52Ser) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- rs199473553
- ClinGen CA014968
- ClinVar RCV000058428
- ClinVar RCV002477194
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM 0.55
- CADD 23.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Sick sinus syndrom)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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: Brugada Syndrome. (PMID 20301690)