G25V (p.Gly25Val) variant of BAG3 (O95817)
G25V (p.Gly25Val) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided. The record also includes experimental measurements and structural context.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- ESP rs142391650
- TOPMed rs142391650
- gnomAD rs142391650
- Conflicting interpretations
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.303