D3V (p.Asp3Val) variant of RYR2 (Ryanodine receptor 2)
D3V (p.Asp3Val) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D3V (p.Asp3Val) variant details
- p.Asp3Val
- rs2527003162
- ClinGen CA345654153
- ClinVar RCV004014630
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.42
- MetaLR 0.77
- MetaSVM 0.41
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)