A285V (p.Ala285Val) variant of DES (Desmin)
A285V (p.Ala285Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A285V (p.Ala285Val) variant details
- p.Ala285Val
- rs1368507241
- ClinGen CA350691558
- ClinVar RCV001171068
- ClinVar RCV001873578
- Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.72
- AlphaMissense 0.93
- MetaLR 0.57
- MetaSVM 0.24
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)