L14P (p.Leu14Pro) variant of ALPL (P05186)
L14P (p.Leu14Pro) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs2148135377
- ClinGen CA338876432
- ClinVar RCV001815056
- Ensembl rs2148135377
- Conflicting interpretations
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.16
- MetaLR 0.84
- MetaSVM 0.73
- PolyPhen-2 0.94
- SIFT 0.07
- MutPred 0.67
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)