M9V (p.Met9Val) variant of BAG3 (O95817)
M9V (p.Met9Val) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M9V (p.Met9Val) variant details
- p.Met9Val
- rs137965903
- ClinGen CA295667
- ClinVar RCV000154683
- ClinVar RCV000226527
- Benign/Likely benign
- Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.083
- REVEL 0.09
- CADD 0.49
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrill)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.27
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)