D378Y (p.Asp378Tyr) variant of ALPL (P05186)
D378Y (p.Asp378Tyr) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D378Y (p.Asp378Tyr) variant details
- p.Asp378Tyr
- rs1553414611
- ClinGen CA338881341
- ClinVar RCV003447912
- ClinVar RCV004721194
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Hypophosphatasia; not provided)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)