A88T (p.Ala88Thr) variant of JUP (Junction plakoglobin)
A88T (p.Ala88Thr) 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 0.46 / 1. The record also includes population frequency data and structural context.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- ESP rs143434512
- ExAC rs143434512
- TOPMed rs143434512
- gnomAD rs143434512
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.23
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available