E33G (p.Glu33Gly) variant of CALCB (P10092)
E33G (p.Glu33Gly) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs892894194
- gnomAD 11-14978346-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 5.77
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available