S445T (p.Ser445Thr) variant of ALPL (P05186)
S445T (p.Ser445Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S445T (p.Ser445Thr) variant details
- p.Ser445Thr
- rs1553415041
- ClinGen CA338881983
- ClinVar RCV002250392
- Ensembl rs1553415041
- Uncertain significance
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.23
- ClinVar: Uncertain significance (Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)