T167K (p.Thr167Lys) variant of ALPL (P05186)
T167K (p.Thr167Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adult hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T167K (p.Thr167Lys) variant details
- p.Thr167Lys
- rs1408325840
- ClinGen CA338877787
- ClinVar RCV001253015
- ClinVar RCV005094212
- Likely pathogenic
- Adult hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.65
- ClinVar: Likely pathogenic (Adult hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)