F39I (p.Phe39Ile) variant of BAG3 (O95817)
F39I (p.Phe39Ile) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The record also includes experimental measurements, published literature, and structural context.
F39I (p.Phe39Ile) variant details
- p.Phe39Ile
- rs2493979913
- ClinGen CA378294207
- ClinVar RCV002796922
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.205
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)