D18N (p.Asp18Asn) variant of BAG3 (O95817)
D18N (p.Asp18Asn) 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 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs2134050513
- ClinGen CA378294071
- ClinVar RCV003143735
- ClinVar RCV006561078
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.07
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.19
- 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)