T173I (p.Thr173Ile) variant of ALPL (P05186)
T173I (p.Thr173Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphataemia or rickets. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
T173I (p.Thr173Ile) variant details
- p.Thr173Ile
- rs2545303612
- ClinGen CA338877853
- ClinVar RCV002622032
- ClinVar RCV006442813
- Pathogenic/Likely pathogenic
- not provided; Hypophosphataemia or rickets
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.95
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphataemia or rickets)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available