F84L (p.Phe84Leu) variant of MYH6 (Myosin-6)
F84L (p.Phe84Leu) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F84L (p.Phe84Leu) variant details
- p.Phe84Leu
- rs397516757
- ClinGen CA389031728
- ClinVar RCV002455715
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.40
- CADD 21.60
- PolyPhen-2 0.54
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available