E21R (p.Glu21Arg) variant of ALPL (P05186)
E21R (p.Glu21Arg) in ALPL (P05186) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E21R (p.Glu21Arg) variant details
- p.Glu21Arg
- gnomAD 1-21554140-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available