G416D (p.Gly416Asp) variant of ALPL (P05186)
G416D (p.Gly416Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypophosphatasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G416D (p.Gly416Asp) variant details
- p.Gly416Asp
- rs2148192467
- ClinGen CA338881776
- cosmic curated COSV66376
- ClinVar RCV001983794
- Conflicting interpretations
- Hypophosphatasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Conflicting classifications of pathogenicity (Hypophosphatasia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)