E33Q (p.Glu33Gln) variant of CALCB (P10092)
E33Q (p.Glu33Gln) in CALCB (P10092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E33Q (p.Glu33Gln) variant details
- p.Glu33Gln
- gnomAD 11-14978345-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 1.94
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available