F35L (p.Phe35Leu) variant of DES (Desmin)
F35L (p.Phe35Leu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- rs768166041
- ClinGen CA350682917
- ClinVar RCV001896521
- ClinVar RCV003146313
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)