R19C (p.Arg19Cys) variant of BAG3 (O95817)
R19C (p.Arg19Cys) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Primary dilated cardiomyopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs727502896
- ClinGen CA088635
- ClinVar RCV000208446
- ClinVar RCV000648827
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Primary dilated cardiomyopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.32
- AlphaMissense 0.36
- MetaLR 0.34
- MetaSVM -0.43
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Primary dil)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.871
- 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)