T54A (p.Thr54Ala) variant of JUP (Junction plakoglobin)
T54A (p.Thr54Ala) 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; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- rs781784933
- ClinGen CA8565570
- ClinVar RCV002013940
- ClinVar RCV005361919
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)