R904C (p.Arg904Cys) variant of MYH7 (Myosin-7)
R904C (p.Arg904Cys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R904C (p.Arg904Cys) variant details
- p.Arg904Cys
- rs727503253
- ClinGen CA012904
- ClinVar RCV000208124
- ClinVar RCV000240635
- Pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.73
- AlphaMissense 0.82
- MetaLR 0.94
- MetaSVM 1.06
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)