P419S (p.Pro419Ser) variant of DES (Desmin)
P419S (p.Pro419Ser) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
P419S (p.Pro419Ser) variant details
- p.Pro419Ser
- rs62635763
- ClinGen CA217034
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV000056783
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.67
- MetaLR 0.76
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.36
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; Cardiovascular phenotype;)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (PMID 10970245)
- Cited in: Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES… (PMID 22395865)