R93H (p.Arg93His) variant of TRDN (Triadin)
R93H (p.Arg93His) in TRDN (Triadin) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs1371219098
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- gnomAD rs1371219098
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available