D71Y (p.Asp71Tyr) variant of JUP (Junction plakoglobin)
D71Y (p.Asp71Tyr) 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.
D71Y (p.Asp71Tyr) variant details
- p.Asp71Tyr
- rs2544194811
- ClinGen CA2580093935
- ClinVar RCV002417468
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.26
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available