M9I (p.Met9Ile) variant of BAG3 (O95817)
M9I (p.Met9Ile) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes experimental measurements, published literature, and structural context.
M9I (p.Met9Ile) variant details
- p.Met9Ile
- rs2134050458
- ClinGen CA378294019
- ClinVar RCV003812608
- Ensembl rs2134050458
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.16
- MetaLR 0.27
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.23
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)