G15R (p.Gly15Arg) variant of RBM20 (RNA-binding protein 20)
G15R (p.Gly15Arg) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- rs559040957
- ClinGen CA5688486
- ClinVar RCV001337180
- ClinVar RCV005470759
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- MetaLR 0.66
- MetaSVM -0.14
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1DD)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)