H381R (p.His381Arg) variant of ALPL (P05186)
H381R (p.His381Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
H381R (p.His381Arg) variant details
- p.His381Arg
- rs1558557428
- ClinGen CA338881377
- ClinVar RCV000761222
- ClinVar RCV002533861
- Pathogenic/Likely pathogenic
- Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Infantile hypophosphatasia; Adult hypophosphatasia; Childhood hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC… (PMID 10679946)
- Cited in: Hypophosphatasia. (PMID 20301329)