P292T (p.Pro292Thr) variant of ALPL (P05186)
P292T (p.Pro292Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P292T (p.Pro292Thr) variant details
- p.Pro292Thr
- rs765458125
- ClinGen CA666669
- ClinVar RCV001785916
- ClinVar RCV003317526
- Likely pathogenic
- not provided; Hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.93
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Population evidence available
- Structural context available
- Cited in: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for… (PMID 15694177)
- Cited in: Hypophosphatasia. (PMID 20301329)