S99T (p.Ser99Thr) variant of DSC2 (Desmocollin-2)
S99T (p.Ser99Thr) 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; Cardiomyopathy; Familial isolated arrhythmogenic right. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S99T (p.Ser99Thr) variant details
- p.Ser99Thr
- rs199714872
- ClinGen CA037617
- ClinVar RCV000707151
- ClinVar RCV001188195
- Conflicting interpretations
- Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrhythmogenic right
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 18.60
- PolyPhen-2 0.08
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiomyopathy; Familial isolated arrh)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.015)
- 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)