S24* (p.Ser24Ter) variant of JUP (Junction plakoglobin)
S24* (p.Ser24Ter) in JUP (Junction plakoglobin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S24* (p.Ser24Ter) variant details
- p.Ser24Ter
- rs782460555
- ClinGen CA212715
- ClinVar RCV000194470
- ExAC rs782460555
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.96
- MetaLR 0.27
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.87
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. (PMID 19067702)
- Cited in: Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in… (PMID 20130592)