V12M (p.Val12Met) variant of BAG3 (O95817)
V12M (p.Val12Met) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs367917821
- ClinGen CA5716205
- ClinVar RCV001221205
- ClinVar RCV003145412
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Myofibrillar myopathy 6)
- 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 -0.539
- 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)