A13T (p.Ala13Thr) variant of BAG3 (O95817)
A13T (p.Ala13Thr) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- gnomAD 10-119651712-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 26.80
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.54
- Literature evidence available