P470S (p.Pro470Ser) variant of BAG3 (O95817)
P470S (p.Pro470Ser) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
P470S (p.Pro470Ser) variant details
- p.Pro470Ser
- rs756020699
- ClinGen CA378297262
- ClinVar RCV001046418
- ClinVar RCV003339442
- Pathogenic
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.55
- PolyPhen-2 0.77
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Pathogenic (in MFM6)
- UniProt: Pathogenic (in MFM6)
- Structural context available
- Cited in: Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. (PMID 30559338)
- Cited in: A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy. (PMID 32859500)