M1I (p.Met1Ile) variant of ALPL (P05186)
M1I (p.Met1Ile) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1362833043
- ClinGen CA338876288
- ClinVar RCV003547080
- Pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- MetaLR 0.71
- MetaSVM 0.23
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.88
- ClinVar: Pathogenic (Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available