C33R (p.Cys33Arg) variant of JUP (Junction plakoglobin)
C33R (p.Cys33Arg) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C33R (p.Cys33Arg) variant details
- p.Cys33Arg
- TOPMed rs1171511931
- gnomAD rs1171511931
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available