T62S (p.Thr62Ser) variant of JUP (Junction plakoglobin)
T62S (p.Thr62Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
T62S (p.Thr62Ser) variant details
- p.Thr62Ser
- rs1555606943
- ClinGen CA399506634
- ClinVar RCV002414889
- gnomAD rs1555606943
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available