D306Y (p.Asp306Tyr) variant of ALPL (P05186)
D306Y (p.Asp306Tyr) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Childhood hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D306Y (p.Asp306Tyr) variant details
- p.Asp306Tyr
- TOPMed rs1333389837
- gnomAD rs1333389837
- Likely pathogenic
- Childhood hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.84
- CADD 27.40
- ClinVar: Likely pathogenic (Childhood hypophosphatasia; not provided)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available