A123D (p.Ala123Asp) variant of ALPL (P05186)
A123D (p.Ala123Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A123D (p.Ala123Asp) variant details
- p.Ala123Asp
- rs1188506084
- ClinGen CA338877194
- ClinVar RCV000671010
- ClinVar RCV001861800
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.88
- CADD 25.40
- PolyPhen-2 0.46
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Childhood hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)