G63V (p.Gly63Val) variant of ALPL (P05186)
G63V (p.Gly63Val) 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; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G63V (p.Gly63Val) variant details
- p.Gly63Val
- rs1490668038
- ClinGen CA338877852
- ClinVar RCV000595916
- ClinVar RCV005010577
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.99
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided; Childhood hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A molecular approach to dominance in hypophosphatasia. (PMID 11479741)
- Cited in: Hypophosphatasia. (PMID 20301329)