G25E (p.Gly25Glu) variant of BAG3 (O95817)
G25E (p.Gly25Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- rs142391650
- ClinGen CA378294116
- NCI-TCGA Cosmic COSV6484
- ClinVar RCV003278447
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- 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 -0.303