F84L (p.Phe84Leu) variant of MYH7 (Myosin-7)
F84L (p.Phe84Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- TOPMed rs267603955
- gnomAD rs267603955
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.64
- CADD 19.50
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available