D12E (p.Asp12Glu) variant of RBM20 (RNA-binding protein 20)
D12E (p.Asp12Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- rs573426783
- ClinGen CA5688485
- ClinVar RCV000621789
- ClinVar RCV000802264
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.67
- CADD 11.20
- PolyPhen-2 0.02
- SIFT 0.42
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1DD; not provid)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-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)