T32I (p.Thr32Ile) variant of JUP (Junction plakoglobin)
T32I (p.Thr32Ile) 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 0.64 / 1. The record also includes population frequency data and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- rs1916685977
- ClinGen CA399507021
- ClinVar RCV002374351
- TOPMed rs1916685977
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.55
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available