R428P (p.Arg428Pro) variant of ALPL (P05186)
R428P (p.Arg428Pro) 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; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R428P (p.Arg428Pro) variant details
- p.Arg428Pro
- rs1644741201
- ClinGen CA338881851
- ClinVar RCV001280814
- ClinVar RCV001871622
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)