V31E (p.Val31Glu) variant of TRDN (Triadin)
V31E (p.Val31Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
V31E (p.Val31Glu) variant details
- p.Val31Glu
- rs2114537900
- ClinGen CA365569305
- ClinVar RCV003020461
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- AlphaMissense 0.37
- MetaLR 0.22
- MetaSVM -0.78
- PolyPhen-2 0.05
- SIFT 0.01
- EVE 0.53
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)