V59F (p.Val59Phe) variant of MYH7 (Myosin-7)
V59F (p.Val59Phe) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V59F (p.Val59Phe) variant details
- p.Val59Phe
- rs771132107
- ClinGen CA029331
- ClinVar RCV004015048
- ExAC rs771132107
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.52
- ESM-1b 0.29
- AlphaMissense 0.31
- MetaLR 0.58
- MetaSVM -0.05
- CADD 18.47
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance (in CMH1)
- UniProt: Uncertain significance (in CMH1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)