T115I (p.Thr115Ile) variant of ALPL (P05186)
T115I (p.Thr115Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T115I (p.Thr115Ile) variant details
- p.Thr115Ile
- rs2545298833
- ClinGen CA338877146
- ClinVar RCV003737088
- ClinVar RCV005645768
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.98
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)