P209S (p.Pro209Ser) variant of BAG3 (O95817)
P209S (p.Pro209Ser) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; BAG3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P209S (p.Pro209Ser) variant details
- p.Pro209Ser
- rs1589630141
- ClinGen CA378295459
- ClinVar RCV000813879
- ClinVar RCV001507780
- Pathogenic/Likely pathogenic
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; BAG3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.87
- MetaLR 0.87
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; BAG3-relate)
- EBI: Pathogenic (in CMT2JJ)
- UniProt: Pathogenic (in CMT2JJ)
- Structural context available
- Cited in: Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. (PMID 28754666)
- Cited in: BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease. (PMID 31853710)