R108H (p.Arg108His) variant of MYH7 (Myosin-7)
R108H (p.Arg108His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R108H (p.Arg108His) variant details
- p.Arg108His
- rs730880832
- ClinGen CA013482
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000158727
- Uncertain significance
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.14
- CADD 26.20
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)