S11F (p.Ser11Phe) variant of TRDN (Triadin)
S11F (p.Ser11Phe) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- rs760549842
- ClinGen CA3984490
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)