V37I (p.Val37Ile) variant of JUP (Junction plakoglobin)
V37I (p.Val37Ile) 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; not provided; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs150769772
- ClinGen CA8565582
- ClinVar RCV001038226
- ClinVar RCV001759732
- Uncertain significance
- Cardiovascular phenotype; not provided; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.02
- CADD 9.35
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)