A4T (p.Ala4Thr) variant of BAG3 (O95817)
A4T (p.Ala4Thr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 10-119651685-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.21
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.113
- Literature evidence available