A21T (p.Ala21Thr) variant of DES (Desmin)
A21T (p.Ala21Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs749447320
- ClinGen CA2125009
- ClinVar RCV003146045
- ClinVar RCV003778860
- Uncertain significance
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.17
- SIFT 0.30
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)