P292L (p.Pro292Leu) variant of ALPL (P05186)
P292L (p.Pro292Leu) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P292L (p.Pro292Leu) variant details
- p.Pro292Leu
- TOPMed rs1644683982
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.80
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypophosphatasia)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available