V40L (p.Val40Leu) variant of BAG3 (O95817)
V40L (p.Val40Leu) in BAG3 (O95817) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The record also includes experimental measurements and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- Ensembl rs2134050610
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.235