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 available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
P81A (p.Pro81Ala) variant details
- p.Pro81Ala
- TOPMed rs1489940065
- gnomAD rs1489940065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 1.09
- CADD 29.70
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available