T104S (p.Thr104Ser) variant of JUP (Junction plakoglobin)
T104S (p.Thr104Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
T104S (p.Thr104Ser) variant details
- p.Thr104Ser
- rs1185864978
- ClinGen CA399505528
- ClinVar RCV002289396
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.12
- MetaLR 0.20
- MetaSVM -0.65
- PolyPhen-2 0.57
- SIFT 0.01
- EVE 0.55
- ClinVar: Uncertain significance (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)