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 0.361
- REVEL 0.19
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available