R22A (p.Arg22Ala) variant of BCR (P11274)
R22A (p.Arg22Ala) in BCR (P11274) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R22A (p.Arg22Ala) variant details
- p.Arg22Ala
- gnomAD 22-23181017-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 24.60
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available