M226T (p.Met226Thr) variant of ALPL (P05186)
M226T (p.Met226Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Osteogenesis imperfecta; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M226T (p.Met226Thr) variant details
- p.Met226Thr
- rs752641050
- ClinGen CA666580
- ClinVar RCV002277788
- ClinVar RCV003560918
- Conflicting interpretations
- not provided; Osteogenesis imperfecta; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.98
- CADD 27.10
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)