S99Y (p.Ser99Tyr) variant of DSC2 (Desmocollin-2)
S99Y (p.Ser99Tyr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S99Y (p.Ser99Tyr) variant details
- p.Ser99Tyr
- rs1191093439
- ClinGen CA402114690
- ClinVar RCV002442073
- ClinVar RCV003775432
- Conflicting interpretations
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)