D12V (p.Asp12Val) variant of RBM20 (RNA-binding protein 20)
D12V (p.Asp12Val) 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 Cardiovascular phenotype; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D12V (p.Asp12Val) variant details
- p.Asp12Val
- rs887276458
- ClinGen CA213903186
- ClinVar RCV001889502
- ClinVar RCV004988859
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.38
- MetaLR 0.49
- MetaSVM -0.53
- CADD 24.50
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)