L56P (p.Leu56Pro) variant of TRDN (Triadin)
L56P (p.Leu56Pro) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Catecholaminergic polymorphic ventricular tachycardia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
L56P (p.Leu56Pro) variant details
- p.Leu56Pro
- rs1060502116
- ClinGen CA16612018
- ClinVar RCV000786235
- ClinVar RCV001580171
- Conflicting interpretations
- Catecholaminergic polymorphic ventricular tachycardia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Conflicting classifications of pathogenicity (Catecholaminergic polymorphic ventricular tachycardia 1; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia. (PMID 31437535)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)