L49V (p.Leu49Val) variant of MYL2 (P10916)
L49V (p.Leu49Val) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- rs2499811775
- ClinGen CA386699275
- ClinVar RCV004017081
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available