G57D (p.Gly57Asp) variant of MYH7 (Myosin-7)
G57D (p.Gly57Asp) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- TOPMed rs895593295
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.19
- ESM-1b 0.53
- AlphaMissense 0.14
- MetaLR 0.16
- MetaSVM -0.92
- CADD 20.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available