I395V (p.Ile395Val) variant of ALPL (P05186)
I395V (p.Ile395Val) 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; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I395V (p.Ile395Val) variant details
- p.Ile395Val
- rs772682471
- ClinGen CA666751
- ClinVar RCV001999838
- ClinVar RCV002492119
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.77
- AlphaMissense 0.13
- MetaLR 0.82
- MetaSVM 0.75
- CADD 23.90
- PolyPhen-2 0.82
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)