M7R (p.Met7Arg) variant of RBM20 (RNA-binding protein 20)
M7R (p.Met7Arg) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M7R (p.Met7Arg) variant details
- p.Met7Arg
- rs1027203249
- ClinGen CA213903185
- ClinVar RCV002898713
- TOPMed rs1027203249
- Likely benign
- Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.44
- MetaLR 0.50
- MetaSVM -0.09
- CADD 27.40
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Likely benign (Dilated cardiomyopathy 1DD)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)