R16P (p.Arg16Pro) variant of DSC2 (Desmocollin-2)
R16P (p.Arg16Pro) in DSC2 (Desmocollin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs869025386
- ClinGen CA353990
- ClinVar RCV000208353
- TOPMed rs869025386
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.14
- MetaLR 0.09
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.63
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)