M1R (p.Met1Arg) variant of BAG3 (O95817)
M1R (p.Met1Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes experimental measurements, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1846841605
- ClinGen CA378293965
- ClinVar RCV001209747
- ClinVar RCV003393887
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- MetaLR 0.48
- MetaSVM 0.07
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.795
- 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)