Q17* (p.Gln17Ter) variant of JUP (Junction plakoglobin)
Q17* (p.Gln17Ter) in JUP (Junction plakoglobin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q17* (p.Gln17Ter) variant details
- p.Gln17Ter
- ExAC rs782409726
- gnomAD rs782409726
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.39
- MetaLR 0.19
- MetaSVM -0.77
- CADD 37.00
- PolyPhen-2 0.90
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available