A88D (p.Ala88Asp) variant of JUP (Junction plakoglobin)
A88D (p.Ala88Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A88D (p.Ala88Asp) variant details
- p.Ala88Asp
- ESP rs137891946
- ExAC rs137891946
- TOPMed rs137891946
- gnomAD rs137891946
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.65
- CADD 28.40
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available