E27G (p.Glu27Gly) variant of BAG3 (O95817)
E27G (p.Glu27Gly) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD 10-119651755-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.573
- Literature evidence available