S80F (p.Ser80Phe) variant of TRDN (Triadin)
S80F (p.Ser80Phe) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S80F (p.Ser80Phe) variant details
- p.Ser80Phe
- rs181287533
- ClinGen CA3984427
- ClinVar RCV000519947
- ClinVar RCV000621197
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.34
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Catecholaminergic polym)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.024)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)