S6L (p.Ser6Leu) variant of DES (Desmin)
S6L (p.Ser6Leu) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S6L (p.Ser6Leu) variant details
- p.Ser6Leu
- rs1214936508
- ClinGen CA350682084
- ClinVar RCV000693314
- gnomAD rs1214936508
- Uncertain significance
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.31
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)