V3875L (p.Val3875Leu) variant of RYR2 (Ryanodine receptor 2)
V3875L (p.Val3875Leu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V3875L (p.Val3875Leu) variant details
- p.Val3875Leu
- rs1060500137
- ClinGen CA345407225
- ClinVar RCV002579534
- ClinVar RCV003147725
- Likely pathogenic
- Ventricular arrhythmias due to cardiac ryanodine receptor calcium release defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.71
- MetaLR 0.90
- MetaSVM 0.99
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Ventricular arrhythmias due to cardiac ryanodine receptor calciu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)