A443G (p.Ala443Gly) variant of ALPL (P05186)
A443G (p.Ala443Gly) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A443G (p.Ala443Gly) variant details
- p.Ala443Gly
- rs768053120
- ClinGen CA666825
- ClinVar RCV003447851
- ExAC rs768053120
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.65
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Likely pathogenic (Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)