A8E (p.Ala8Glu) variant of BCR (P11274)
A8E (p.Ala8Glu) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- gnomAD 22-23180983-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.36
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available