P292S (p.Pro292Ser) variant of ALPL (P05186)
P292S (p.Pro292Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P292S (p.Pro292Ser) variant details
- p.Pro292Ser
- rs765458125
- ClinGen CA666668
- ClinVar RCV002648134
- ClinVar RCV003388160
- Pathogenic/Likely pathogenic
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.75
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Hypophosphatasia; not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)