S9C (p.Ser9Cys) variant of DSC2 (Desmocollin-2)
S9C (p.Ser9Cys) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy. 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.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- rs794728064
- ClinGen CA022768
- ClinVar RCV000181134
- ClinVar RCV001804911
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- CADD 9.58
- ClinVar: Uncertain significance (not provided; Cardiomyopathy)
- 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: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)