F38S (p.Phe38Ser) variant of MYH7 (Myosin-7)
F38S (p.Phe38Ser) in MYH7 (Myosin-7) 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.
F38S (p.Phe38Ser) variant details
- p.Phe38Ser
- rs2502322542
- ClinGen CA389053866
- ClinVar RCV003040883
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available