S39N (p.Ser39Asn) variant of JUP (Junction plakoglobin)
S39N (p.Ser39Asn) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S39N (p.Ser39Asn) variant details
- p.Ser39Asn
- gnomAD rs1555607010
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.09
- CADD 21.60
- PolyPhen-2 0.15
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available