A95V (p.Ala95Val) variant of TRDN (Triadin)
A95V (p.Ala95Val) 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 5; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A95V (p.Ala95Val) variant details
- p.Ala95Val
- rs764770921
- ClinGen CA3984422
- ClinVar RCV001001216
- ClinVar RCV002434392
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 5; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- CADD 24.60
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 5; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)