D60H (p.Asp60His) variant of ALPL (P05186)
D60H (p.Asp60His) 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; Adult hypophosphatasia; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D60H (p.Asp60His) variant details
- p.Asp60His
- rs1644472852
- ClinGen CA338877755
- ClinVar RCV001351723
- ClinVar RCV001822864
- Conflicting interpretations
- not provided; Adult hypophosphatasia; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Conflicting classifications of pathogenicity (not provided; Adult hypophosphatasia; Hypophosphatasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)