S41P (p.Ser41Pro) variant of DSC2 (Desmocollin-2)
S41P (p.Ser41Pro) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S41P (p.Ser41Pro) variant details
- p.Ser41Pro
- rs2144850316
- ClinGen CA402115077
- ClinVar RCV001805556
- Ensembl rs2144850316
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)