Q9H (p.Gln9His) variant of RBM20 (RNA-binding protein 20)
Q9H (p.Gln9His) 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; not specified; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- rs1157177960
- ClinGen CA378527321
- ClinVar RCV001230637
- ClinVar RCV002436897
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- MetaLR 0.58
- MetaSVM -0.26
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)