A23V (p.Ala23Val) variant of RBM20 (RNA-binding protein 20)
A23V (p.Ala23Val) in RBM20 (RNA-binding protein 20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1DD; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs925693368
- ClinGen CA213903188
- ClinVar RCV000493960
- ClinVar RCV000535151
- Uncertain significance
- Dilated cardiomyopathy 1DD; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.39
- MetaLR 0.73
- MetaSVM 0.08
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD; Cardiovascular phenotype; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-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)