E21* (p.Glu21Ter) variant of ALPL (P05186)
E21* (p.Glu21Ter) in ALPL (P05186) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- gnomAD 1-21554142-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 45.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available