M89K (p.Met89Lys) variant of JUP (Junction plakoglobin)
M89K (p.Met89Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
M89K (p.Met89Lys) variant details
- p.Met89Lys
- rs542745694
- ClinGen CA399505773
- ClinVar RCV003808038
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.63
- MetaLR 0.25
- MetaSVM -0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)