R281T (p.Arg281Thr) variant of MYH7 (Myosin-7)
R281T (p.Arg281Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Left ventricular noncompaction. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R281T (p.Arg281Thr) variant details
- p.Arg281Thr
- rs730880856
- ClinGen CA016879
- ClinVar RCV000158768
- ClinVar RCV000219555
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Left ventricular noncompaction
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.86
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.95
- CADD 23.10
- PolyPhen-2 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Left ventricular noncomp)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)