S3* (p.Ser3Ter) variant of ALPL (P05186)
S3* (p.Ser3Ter) in ALPL (P05186) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- rs1644471877
- gnomAD 1-21560702-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.341
- CADD 8.40
- Population evidence available
- Structural context available
- Literature evidence available