P209Q (p.Pro209Gln) variant of BAG3 (O95817)
P209Q (p.Pro209Gln) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P209Q (p.Pro209Gln) variant details
- p.Pro209Gln
- rs121918312
- ClinGen CA170913
- ClinVar RCV000144684
- ClinVar RCV001849971
- Pathogenic
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- EBI: Pathogenic (in MFM6)
- UniProt: Pathogenic (in MFM6)
- Structural context available
- Cited in: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar… (PMID 25208129)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)