L43F (p.Leu43Phe) variant of ALPL (P05186)
L43F (p.Leu43Phe) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Adult hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- ESP rs148357203
- TOPMed rs148357203
- gnomAD rs148357203
- Conflicting interpretations
- not provided; Adult hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adult hypophosphatasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available