M10V (p.Met10Val) variant of BAG3 (O95817)
M10V (p.Met10Val) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M10V (p.Met10Val) variant details
- p.Met10Val
- rs779929078
- ClinGen CA5716204
- ClinVar RCV001930301
- ClinVar RCV004603068
- Conflicting interpretations
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.09
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.478
- 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)