A120D (p.Ala120Asp) variant of DES (Desmin)
A120D (p.Ala120Asp) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A120D (p.Ala120Asp) variant details
- p.Ala120Asp
- rs1954373010
- ClinGen CA350685499
- ClinVar RCV001059305
- UniProt VAR 075228
- Likely pathogenic
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy)
- EBI: Pathogenic (in CMD1I)
- UniProt: Pathogenic (in CMD1I)
- Structural context available
- Cited in: The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden… (PMID 24200904)
- Cited in: Desmin mutation responsible for idiopathic dilated cardiomyopathy. (PMID 10430757)