H341R (p.His341Arg) variant of ALPL (P05186)
H341R (p.His341Arg) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H341R (p.His341Arg) variant details
- p.His341Arg
- rs1382219911
- ClinGen CA338881020
- ClinVar RCV001300266
- ClinVar RCV001830171
- Pathogenic/Likely pathogenic
- Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.93
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Childhood hypophosphatasia; Infantile hypophosphatasia; Adult hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)