L14F (p.Leu14Phe) variant of ALPL (P05186)
L14F (p.Leu14Phe) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs139214514
- ClinGen CA666361
- ClinVar RCV000442772
- ClinVar RCV001277094
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.26
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)