N417S (p.Asn417Ser) variant of ALPL (P05186)
N417S (p.Asn417Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant ALPL-related disorders; Hypophosphataemia or rickets; Adult h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
N417S (p.Asn417Ser) variant details
- p.Asn417Ser
- rs121918014
- ClinGen CA199266
- ClinVar RCV000014672
- ClinVar RCV000169778
- Pathogenic/Likely pathogenic
- Autosomal dominant ALPL-related disorders; Hypophosphataemia or rickets; Adult h
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant ALPL-related disorders; Hypophosphataemia or)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing… (PMID 11745997)
- Cited in: An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as… (PMID 23688511)