A360P (p.Ala360Pro) variant of DES (Desmin)
A360P (p.Ala360Pro) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A360P (p.Ala360Pro) variant details
- p.Ala360Pro
- rs121913000
- ClinGen CA257642
- ClinVar RCV002265558
- UniProt VAR 007901
- Pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Structural context available
- Cited in: Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. (PMID 10717012)
- Cited in: Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. (PMID 16865695)