Y18* (p.Tyr18Ter) variant of CALCB (P10092)
Y18* (p.Tyr18Ter) in CALCB (P10092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y18* (p.Tyr18Ter) variant details
- p.Tyr18Ter
- gnomAD 11-15074772-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 36.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available