M1V (p.Met1Val) variant of ALPL (P05186)
M1V (p.Met1Val) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2148135255
- ClinGen CA338876282
- ClinVar RCV001897390
- ClinVar RCV005016734
- Uncertain significance
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- MetaLR 0.72
- MetaSVM 0.31
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.90
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)