S77F (p.Ser77Phe) variant of JUP (Junction plakoglobin)
S77F (p.Ser77Phe) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S77F (p.Ser77Phe) variant details
- p.Ser77Phe
- rs782771565
- ClinGen CA8565543
- ClinVar RCV003152171
- ClinVar RCV003778910
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.14
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)