P35T (p.Pro35Thr) variant of JUP (Junction plakoglobin)
P35T (p.Pro35Thr) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- ExAC rs782787073
- gnomAD rs782787073
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available