N47I (p.Asn47Ile) variant of ALPL (P05186)
N47I (p.Asn47Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
N47I (p.Asn47Ile) variant details
- p.Asn47Ile
- rs2148151094
- ClinGen CA338877610
- ClinVar RCV001815059
- ClinVar RCV005409022
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- AlphaMissense 0.62
- MetaLR 0.79
- MetaSVM 0.52
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.12
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)