G420D (p.Gly420Asp) variant of ALPL (P05186)
G420D (p.Gly420Asp) in ALPL (P05186) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G420D (p.Gly420Asp) variant details
- p.Gly420Asp
- cosmic curated COSV10821
- Likely pathogenic
- Hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.95
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypophosphatasia)
- UniProt: Likely pathogenic (in HOPS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available