R19S (p.Arg19Ser) variant of BAG3 (O95817)
R19S (p.Arg19Ser) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes experimental measurements, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- rs727502896
- ClinGen CA175279
- ClinVar RCV000150173
- ClinVar RCV005222770
- Uncertain significance
- not specified; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.36
- MetaLR 0.34
- MetaSVM -0.43
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.25
- ClinVar: Uncertain significance (not specified; Dilated cardiomyopathy 1HH; Myofibrillar myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)