P209L (p.Pro209Leu) variant of BAG3 (O95817)
P209L (p.Pro209Leu) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
P209L (p.Pro209Leu) variant details
- p.Pro209Leu
- rs121918312
- ClinGen CA308228
- ClinVar RCV000006347
- ClinVar RCV000183317
- Pathogenic
- Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- 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 (Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardi)
- EBI: Pathogenic (in MFM6)
- UniProt: Pathogenic (in MFM6)
- Structural context available
- Cited in: Mutation in BAG3 causes severe dominant childhood muscular dystrophy. (PMID 19085932)
- Cited in: Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. (PMID 20605452)