T141I (p.Thr141Ile) variant of ALPL (P05186)
T141I (p.Thr141Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T141I (p.Thr141Ile) variant details
- p.Thr141Ile
- rs916300043
- ClinGen CA19059333
- ClinVar RCV001990288
- ClinVar RCV005645341
- Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.94
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)