Q18K (p.Gln18Lys) variant of RBM20 (RNA-binding protein 20)
Q18K (p.Gln18Lys) 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 Dilated cardiomyopathy 1DD; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- rs960474640
- ClinGen CA213903187
- ClinVar RCV001954539
- ClinVar RCV005262609
- Conflicting interpretations
- Dilated cardiomyopathy 1DD; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- MetaLR 0.56
- MetaSVM -0.41
- CADD 21.90
- PolyPhen-2 0.11
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1DD; Cardiovascular phenotype)
- 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)