Y388H (p.Tyr388His) variant of ALPL (P05186)
Y388H (p.Tyr388His) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hypophosphatasia; not provided; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y388H (p.Tyr388His) variant details
- p.Tyr388His
- rs1644722881
- ClinGen CA338881450
- ClinVar RCV001207052
- ClinVar RCV003462693
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.89
- AlphaMissense 0.74
- MetaLR 0.92
- MetaSVM 1.04
- CADD 24.40
- PolyPhen-2 0.25
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided; Adult hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)