L414M (p.Leu414Met) variant of ALPL (P05186)
L414M (p.Leu414Met) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L414M (p.Leu414Met) variant details
- p.Leu414Met
- rs2148192444
- ClinGen CA338881760
- ClinVar RCV001385127
- ClinVar RCV003331144
- Pathogenic/Likely pathogenic
- not provided; Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.80
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 0.95
- CADD 22.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Adult hypophosphatasia; 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: Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in… (PMID 11855933)
- Cited in: Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue… (PMID 12920074)