A4D (p.Ala4Asp) variant of BAG3 (O95817)
A4D (p.Ala4Asp) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 10-119651686-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.24
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.113
- Literature evidence available