G397D (p.Gly397Asp) variant of ALPL (P05186)
G397D (p.Gly397Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G397D (p.Gly397Asp) variant details
- p.Gly397Asp
- rs1400042777
- ClinGen CA338881624
- ClinVar RCV001756581
- ClinVar RCV001806253
- Conflicting interpretations
- not specified; not provided; Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Hypophosphatasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Hypophosphatasia. (PMID 20301329)