F38L (p.Phe38Leu) variant of MYH7 (Myosin-7)
F38L (p.Phe38Leu) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- TOPMed rs1893037662
- gnomAD rs1893037662
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.78
- CADD 29.10
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available