G17R (p.Gly17Arg) variant of BAG3 (O95817)
G17R (p.Gly17Arg) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs727502895
- ClinGen CA175276
- ClinVar RCV000150172
- ClinVar RCV001052418
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.795
- 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)