E27K (p.Glu27Lys) variant of BAG3 (O95817)
E27K (p.Glu27Lys) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD 10-119651754-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.573
- Literature evidence available