L26H (p.Leu26His) variant of DES (Desmin)
L26H (p.Leu26His) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L26H (p.Leu26His) variant details
- p.Leu26His
- rs1064796529
- ClinGen CA16617476
- ClinVar RCV000478316
- ClinVar RCV000766356
- Uncertain significance
- Desmin-related myofibrillar myopathy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.28
- CADD 21.80
- PolyPhen-2 0.60
- SIFT 0.58
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy; not specified; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)