H6Q (p.His6Gln) variant of BAG3 (O95817)
H6Q (p.His6Gln) 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 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H6Q (p.His6Gln) variant details
- p.His6Gln
- rs745806982
- ClinGen CA5716203
- ClinVar RCV003783603
- ClinVar RCV005631237
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.09
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.70
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.117
- 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)