G57C (p.Gly57Cys) variant of MYH7 (Myosin-7)
G57C (p.Gly57Cys) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- Ensembl rs2138686551
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.69
- MetaSVM 0.58
- CADD 25.90
- Structural context available