S77Y (p.Ser77Tyr) variant of JUP (Junction plakoglobin)
S77Y (p.Ser77Tyr) 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 0.38 / 1. The record also includes population frequency data and structural context.
S77Y (p.Ser77Tyr) variant details
- p.Ser77Tyr
- ExAC rs782771565
- gnomAD rs782771565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.40
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available