H171Y (p.His171Tyr) variant of ALPL (P05186)
H171Y (p.His171Tyr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatasia; ALPL-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
H171Y (p.His171Tyr) variant details
- p.His171Tyr
- UniProt VAR 006154
- Pathogenic
- Hypophosphatasia; ALPL-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.99
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypophosphatasia; ALPL-related disorder)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X… (PMID 10094560)
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)