N49I (p.Asn49Ile) variant of ALPL (P05186)
N49I (p.Asn49Ile) 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 0.59 / 1. The record also includes published literature and structural context.
N49I (p.Asn49Ile) variant details
- p.Asn49Ile
- rs868522953
- ClinGen CA338877627
- ClinVar RCV001818095
- TOPMed rs868522953
- Conflicting interpretations
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.64
- MetaLR 0.67
- MetaSVM 0.13
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.38
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)