K12R (p.Lys12Arg) variant of JUP (Junction plakoglobin)
K12R (p.Lys12Arg) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- rs1555607135
- ClinGen CA399507268
- ClinVar RCV002610183
- Ensembl rs1555607135
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.74
- PolyPhen-2 0.89
- SIFT 0.17
- EVE 0.46
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)