S53P (p.Ser53Pro) variant of MYH7 (Myosin-7)
S53P (p.Ser53Pro) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- TOPMed rs1893034850
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.72
- MetaSVM 0.56
- CADD 26.10
- Structural context available