S14R (p.Ser14Arg) variant of RBM20 (RNA-binding protein 20)
S14R (p.Ser14Arg) 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; not provided; Dilated cardiomyopathy 1DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- rs541043583
- ClinGen CA335577
- ClinVar RCV000183887
- ClinVar RCV000814476
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- MetaLR 0.57
- MetaSVM -0.32
- CADD 24.50
- PolyPhen-2 0.76
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)