D378H (p.Asp378His) variant of ALPL (P05186)
D378H (p.Asp378His) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
D378H (p.Asp378His) variant details
- p.Asp378His
- rs1553414611
- ClinGen CA338881339
- ClinVar RCV000672795
- ClinVar RCV001071997
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; not provided; Hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)