D30H (p.Asp30His) variant of BCR (P11274)
D30H (p.Asp30His) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D30H (p.Asp30His) variant details
- p.Asp30His
- gnomAD 22-23181048-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available