A111T (p.Ala111Thr) variant of ALPL (P05186)
A111T (p.Ala111Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; not provided; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A111T (p.Ala111Thr) variant details
- p.Ala111Thr
- rs773257111
- ClinGen CA666460
- ClinVar RCV001029819
- ClinVar RCV001248534
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided; Adult hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Correlations of genotype and phenotype in hypophosphatasia. (PMID 10332035)
- 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)