C49Y (p.Cys49Tyr) variant of JUP (Junction plakoglobin)
C49Y (p.Cys49Tyr) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- ExAC rs782199757
- gnomAD rs782199757
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.18
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available