D18Y (p.Asp18Tyr) variant of BAG3 (O95817)
D18Y (p.Asp18Tyr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D18Y (p.Asp18Tyr) variant details
- p.Asp18Tyr
- gnomAD 10-119651727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.19
- Literature evidence available