E55D (p.Glu55Asp) variant of MYH7 (Myosin-7)
E55D (p.Glu55Asp) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- TOPMed rs1893034416
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.91
- CADD 9.91
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available