E5K (p.Glu5Lys) variant of MYH7 (Myosin-7)
E5K (p.Glu5Lys) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- Ensembl rs2138687122
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.58
- MetaSVM 0.15
- CADD 23.60
- Structural context available