G25D (p.Gly25Asp) variant of BAG3 (O95817)
G25D (p.Gly25Asp) in BAG3 (O95817) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- rs727502897
- gnomAD 10-119651741-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 29.50
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.303
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)