A49T (p.Ala49Thr) variant of MYH6 (Myosin-6)
A49T (p.Ala49Thr) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs2502212707
- ClinGen CA389031970
- ClinVar RCV002396703
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available