A49S (p.Ala49Ser) variant of MYH7 (Myosin-7)
A49S (p.Ala49Ser) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- TOPMed rs1893035652
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.44
- ESM-1b 0.50
- AlphaMissense 0.23
- MetaLR 0.74
- MetaSVM 0.57
- CADD 25.70
- Structural context available