P23S (p.Pro23Ser) variant of BAG3 (O95817)
P23S (p.Pro23Ser) 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; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs747846089
- ClinGen CA5716208
- ClinVar RCV000319672
- ClinVar RCV000524859
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.85
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrill)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.545
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)