K12E (p.Lys12Glu) variant of BCR (P11274)
K12E (p.Lys12Glu) in BCR (P11274) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD 22-23180994-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available