T54K (p.Thr54Lys) variant of JUP (Junction plakoglobin)
T54K (p.Thr54Lys) in JUP (Junction plakoglobin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- ExAC rs782529328
- TOPMed rs782529328
- gnomAD rs782529328
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.16
- CADD 19.00
- PolyPhen-2 0.09
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available