A487V (p.Ala487Val) variant of ALPL (P05186)
A487V (p.Ala487Val) 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; Childhood hypophosphatasia; not provided. 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.
A487V (p.Ala487Val) variant details
- p.Ala487Val
- rs1229517379
- ClinGen CA338882285
- ClinVar RCV000672960
- ClinVar RCV001789781
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Childhood hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.88
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Childhood hypophosphatasia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)