A443V (p.Ala443Val) variant of ALPL (P05186)
A443V (p.Ala443Val) 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; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A443V (p.Ala443Val) variant details
- p.Ala443Val
- rs768053120
- ClinGen CA338881972
- cosmic curated COSV10531
- ClinVar RCV001332475
- Pathogenic/Likely pathogenic
- Hypophosphatasia; Childhood hypophosphatasia; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; Childhood hypophosphatasia; Adult hypophosphat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)