R45C (p.Arg45Cys) variant of BAG3 (O95817)
R45C (p.Arg45Cys) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R45C (p.Arg45Cys) variant details
- p.Arg45Cys
- rs747820097
- ClinGen CA5716225
- ClinVar RCV000469809
- ClinVar RCV000786109
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.0175
- 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)