A166T (p.Ala166Thr) variant of SCN5A (Nav1.5)
A166T (p.Ala166Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A166T (p.Ala166Thr) variant details
- p.Ala166Thr
- rs201232332
- ClinGen CA064027
- cosmic curated COSV10736
- ClinVar RCV001572069
- Likely benign
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.80
- ESM-1b 0.28
- AlphaMissense 0.21
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.50
- ClinVar: Likely benign (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0016)
- Structural context available