S99F (p.Ser99Phe) variant of DSC2 (Desmocollin-2)
S99F (p.Ser99Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S99F (p.Ser99Phe) variant details
- p.Ser99Phe
- rs1191093439
- ClinGen CA402114688
- cosmic curated COSV51865
- ClinVar RCV003518411
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 11; Cardiom
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- CADD 19.60
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)