A176T (p.Ala176Thr) variant of ALPL (P05186)
A176T (p.Ala176Thr) 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; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A176T (p.Ala176Thr) variant details
- p.Ala176Thr
- rs121918019
- ClinGen CA256935
- cosmic curated COSV10087
- ClinVar RCV000014677
- Pathogenic/Likely pathogenic
- Hypophosphataemia or rickets; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.90
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphataemia or rickets; Adult hypophosphatasia; Childhood)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC… (PMID 10679946)
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)