D30E (p.Asp30Glu) variant of BCR (P11274)
D30E (p.Asp30Glu) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- gnomAD 22-23181050-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- CADD 18.10
- PolyPhen-2 0.30
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available