E33R (p.Glu33Arg) variant of CALCB (P10092)
E33R (p.Glu33Arg) in CALCB (P10092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E33R (p.Glu33Arg) variant details
- p.Glu33Arg
- gnomAD 11-14978338-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 16.30
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available