Q106H (p.Gln106His) variant of ALPL (P05186)
Q106H (p.Gln106His) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphataemia or rickets; Hypophosphatasia; Adult hypophosphatasia. 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.
Q106H (p.Gln106His) variant details
- p.Gln106His
- rs1553412268
- ClinGen CA338877090
- ClinVar RCV000669326
- ClinVar RCV001300265
- Pathogenic/Likely pathogenic
- Hypophosphataemia or rickets; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.87
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphataemia or rickets; Hypophosphatasia; Adult hypophosph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)