Y28C (p.Tyr28Cys) variant of ALPL (P05186)
Y28C (p.Tyr28Cys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- UniProt VAR 013972
- Pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.91
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HPPI)
- UniProt: Pathogenic (in HPPI)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of… (PMID 11438998)
- Cited in: Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel… (PMID 10834525)