E25D (p.Glu25Asp) variant of MYH7 (Myosin-7)
E25D (p.Glu25Asp) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- TOPMed rs1893039483
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.43
- MetaSVM -0.47
- CADD 20.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available