V59F (p.Val59Phe) variant of MYH6 (Myosin-6)
V59F (p.Val59Phe) 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 0.42 / 1. The record also includes population frequency data and structural context.
V59F (p.Val59Phe) variant details
- p.Val59Phe
- ESP rs377029781
- ExAC rs377029781
- TOPMed rs377029781
- gnomAD rs377029781
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available