R428Q (p.Arg428Gln) variant of ALPL (P05186)
R428Q (p.Arg428Gln) 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; Adult hypophosphatasia; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R428Q (p.Arg428Gln) variant details
- p.Arg428Gln
- rs1644741201
- ClinGen CA338881850
- ClinVar RCV002613170
- ClinVar RCV003447629
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.89
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)