Q207P (p.Gln207Pro) variant of ALPL (P05186)
Q207P (p.Gln207Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q207P (p.Gln207Pro) variant details
- p.Gln207Pro
- rs121918004
- ClinGen CA256923
- ClinVar RCV000014654
- ClinVar RCV000224906
- Pathogenic/Likely pathogenic
- not provided; Hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.98
- CADD 24.50
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hypophosphatasia; Infantile hypophosphatasia)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively… (PMID 1409720)
- Cited in: Hypophosphatasia. (PMID 20301329)