I114F (p.Ile114Phe) variant of MYH7 (Myosin-7)
I114F (p.Ile114Phe) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
I114F (p.Ile114Phe) variant details
- p.Ile114Phe
- ExAC rs752592463
- gnomAD rs752592463
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.96
- CADD 26.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available