E47D (p.Glu47Asp) variant of JUP (Junction plakoglobin)
E47D (p.Glu47Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- rs2143735148
- ClinGen CA399506823
- ClinVar RCV001786849
- ClinVar RCV005652707
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0522
- REVEL 0.04
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available