K449T (p.Lys449Thr) variant of DES (Desmin)
K449T (p.Lys449Thr) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
K449T (p.Lys449Thr) variant details
- p.Lys449Thr
- rs267607485
- ClinGen CA217038
- ClinVar RCV000056786
- ClinVar RCV000239724
- Pathogenic/Likely pathogenic
- Desmin-related myofibrillar myopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- CADD 29.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Desmin-related myofibrillar myopathy; not provided)
- EBI: Pathogenic (in MFM1)
- UniProt: Pathogenic (in MFM1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. (PMID 14711882)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)