D41E (p.Asp41Glu) variant of BAG3 (O95817)
D41E (p.Asp41Glu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D41E (p.Asp41Glu) variant details
- p.Asp41Glu
- gnomAD 10-119651798-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.45
- Literature evidence available