V34M (p.Val34Met) variant of JUP (Junction plakoglobin)
V34M (p.Val34Met) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d. 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.
V34M (p.Val34Met) variant details
- p.Val34Met
- rs794729029
- ClinGen CA308441
- ClinVar RCV001125928
- ClinVar RCV001125929
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.06
- CADD 20.20
- PolyPhen-2 0.42
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)