A468V (p.Ala468Val) variant of ALPL (P05186)
A468V (p.Ala468Val) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A468V (p.Ala468Val) variant details
- p.Ala468Val
- rs766656419
- ClinGen CA666842
- cosmic curated COSV66376
- ClinVar RCV000490707
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.94
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)