A5V (p.Ala5Val) variant of RBM20 (RNA-binding protein 20)
A5V (p.Ala5Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs1488746272
- ClinGen CA378527267
- ClinVar RCV001867444
- ClinVar RCV004671476
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.70
- CADD 22.10
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1DD)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)