L22C (p.Leu22Cys) variant of BAG3 (O95817)
L22C (p.Leu22Cys) in BAG3 (O95817) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L22C (p.Leu22Cys) variant details
- p.Leu22Cys
- gnomAD 10-119651737-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 22.60
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.23
- Literature evidence available