P81A (p.Pro81Ala) variant of MYH7 (Myosin-7)
P81A (p.Pro81Ala) in MYH7 (Myosin-7) 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.
P81A (p.Pro81Ala) variant details
- p.Pro81Ala
- TOPMed rs1489940065
- gnomAD rs1489940065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available