S7F (p.Ser7Phe) variant of DSC2 (Desmocollin-2)
S7F (p.Ser7Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs1227564823
- ClinGen CA402115296
- ClinVar RCV001187384
- ClinVar RCV002559127
- Conflicting interpretations
- Familial isolated arrhythmogenic right ventricular dysplasia; Cardiomyopathy; Ar
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 12.00
- PolyPhen-2 0.09
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Familial isolated arrhythmogenic right ventricular dysplasia; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)