V24E (p.Val24Glu) variant of TRDN (Triadin)
V24E (p.Val24Glu) 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; not provided; Catechola. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V24E (p.Val24Glu) variant details
- p.Val24Glu
- rs201097255
- ClinGen CA3984484
- ClinVar RCV000620120
- ClinVar RCV001712418
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; not provided; Catechola
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.29
- CADD 27.30
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- 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)