p.Cys13 Ser17del variant of ALPL (P05186)
p.Cys13 Ser17del in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
p.Cys13 Ser17del variant details
- gnomAD 1-21554115-ACCTGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 17.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available