G162S (p.Gly162Ser) variant of ALPL (P05186)
G162S (p.Gly162Ser) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G162S (p.Gly162Ser) variant details
- p.Gly162Ser
- rs760029254
- ClinGen CA666514
- cosmic curated COSV99058
- ClinVar RCV001389954
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.99
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Hypophosphatasia; not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Hypophosphatasia. (PMID 20301329)