A13E (p.Ala13Glu) variant of BAG3 (O95817)
A13E (p.Ala13Glu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A13E (p.Ala13Glu) variant details
- p.Ala13Glu
- gnomAD 10-119651713-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.54
- Literature evidence available