S77P (p.Ser77Pro) variant of JUP (Junction plakoglobin)
S77P (p.Ser77Pro) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S77P (p.Ser77Pro) variant details
- p.Ser77Pro
- rs2544194465
- ClinGen CA399506034
- ClinVar RCV004513427
- ClinVar RCV006564821
- Uncertain significance
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)