V65L (p.Val65Leu) variant of JUP (Junction plakoglobin)
V65L (p.Val65Leu) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs727503100
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- NCI-TCGA Cosmic COSV6027
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)