E27D (p.Glu27Asp) variant of BAG3 (O95817)
E27D (p.Glu27Asp) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD rs1357331177
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.573