Q11L (p.Gln11Leu) variant of BAG3 (O95817)
Q11L (p.Gln11Leu) 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 0.41 / 1. The record also includes experimental measurements, published literature, and structural context.
Q11L (p.Gln11Leu) variant details
- p.Gln11Leu
- rs2134050474
- ClinGen CA378294032
- ClinVar RCV001921617
- Ensembl rs2134050474
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.17
- MetaLR 0.28
- MetaSVM -0.48
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.33
- 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 -0.152
- 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)