A166T (p.Ala166Thr) variant of SCN5A (Q14524)
A166T (p.Ala166Thr) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiac arrhythmia; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 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
- Cardiac arrhythmia; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.80
- CADD 27.10
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Likely benign (Cardiac arrhythmia; not provided; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0016)
- Structural context available