S18Q (p.Ser18Gln) variant of BCR (P11274)
S18Q (p.Ser18Gln) in BCR (P11274) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S18Q (p.Ser18Gln) variant details
- p.Ser18Gln
- gnomAD 22-23181011-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 24.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available