E25K (p.Glu25Lys) variant of MYH7 (Myosin-7)
E25K (p.Glu25Lys) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- ExAC rs747976769
- gnomAD rs747976769
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.59
- MetaSVM 0.01
- CADD 26.50
- Structural context available