N116S (p.Asn116Ser) variant of DES (Desmin)
N116S (p.Asn116Ser) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Desmin-related myofibrillar myopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
N116S (p.Asn116Ser) variant details
- p.Asn116Ser
- rs267607499
- ClinGen CA217067
- ClinVar RCV000056799
- ClinVar RCV001384253
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. (PMID 20829228)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)