N16D (p.Asn16Asp) variant of BAG3 (O95817)
N16D (p.Asn16Asp) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N16D (p.Asn16Asp) variant details
- p.Asn16Asp
- rs1474784659
- ClinGen CA378294059
- ClinVar RCV000794067
- ClinVar RCV003279067
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.326
- 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)