M89T (p.Met89Thr) variant of JUP (Junction plakoglobin)
M89T (p.Met89Thr) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M89T (p.Met89Thr) variant details
- p.Met89Thr
- rs542745694
- ClinGen CA8565528
- ClinVar RCV000707335
- ClinVar RCV000786330
- Conflicting interpretations
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.56
- AlphaMissense 0.63
- MetaLR 0.25
- MetaSVM -0.56
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)