G17A (p.Gly17Ala) variant of BAG3 (O95817)
G17A (p.Gly17Ala) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs1846842565
- ClinGen CA378294069
- ClinVar RCV001897944
- gnomAD rs1846842565
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- 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 -0.795
- 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)