A120P (p.Ala120Pro) variant of DES (Desmin)
A120P (p.Ala120Pro) 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 0.93 / 1. The record also includes published literature and structural context.
A120P (p.Ala120Pro) variant details
- p.Ala120Pro
- rs794728996
- ClinGen CA308328
- ClinVar RCV000183377
- ClinVar RCV001852352
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in CMD1I)
- UniProt: Pathogenic (in CMD1I)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)