S24L (p.Ser24Leu) variant of JUP (Junction plakoglobin)
S24L (p.Ser24Leu) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- rs782460555
- ClinGen CA308436
- cosmic curated COSV60278
- ClinVar RCV000183480
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.52
- AlphaMissense 0.96
- MetaLR 0.27
- MetaSVM -0.51
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; no)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)