M295T (p.Met295Thr) variant of ALPL (P05186)
M295T (p.Met295Thr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adult hypophosphatasia; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M295T (p.Met295Thr) variant details
- p.Met295Thr
- rs1220125702
- ClinGen CA338880206
- ClinVar RCV001925196
- ClinVar RCV002555640
- Conflicting interpretations
- Adult hypophosphatasia; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.90
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Adult hypophosphatasia; not provided; Inborn genetic diseases)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Population evidence available
- Structural context available
- Cited in: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for… (PMID 15694177)
- Cited in: Hypophosphatasia. (PMID 20301329)