G15S (p.Gly15Ser) variant of RBM20 (RNA-binding protein 20)
G15S (p.Gly15Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs559040957
- ClinGen CA378527389
- ClinVar RCV000546781
- ClinVar RCV004024147
- Uncertain significance
- Dilated cardiomyopathy 1DD; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- MetaLR 0.53
- MetaSVM -0.35
- CADD 24.80
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1DD; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)