R17C (p.Arg17Cys) variant of MYH7 (Myosin-7)
R17C (p.Arg17Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Myosin storage myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs45511396
- ClinGen CA015539
- ClinVar RCV000035944
- ClinVar RCV001188090
- Uncertain significance
- Cardiovascular phenotype; not specified; Myosin storage myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.71
- AlphaMissense 0.84
- MetaLR 0.82
- MetaSVM 0.86
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Myosin storage myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-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)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)