A4T (p.Ala4Thr) variant of DES (Desmin)
A4T (p.Ala4Thr) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1239304442
- ClinGen CA350682006
- ClinVar RCV001363051
- TOPMed rs1239304442
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.20
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.91
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)