N493K (p.Asn493Lys) variant of ALPL (P05186)
N493K (p.Asn493Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypophosphatasia; Childhood hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
N493K (p.Asn493Lys) variant details
- p.Asn493Lys
- rs759758484
- ClinGen CA338882354
- ClinVar RCV001789735
- ClinVar RCV005645304
- Uncertain significance
- Hypophosphatasia; Childhood hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.65
- MetaLR 0.80
- MetaSVM 0.52
- PolyPhen-2 0.99
- SIFT 0.28
- MutPred 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)