G47W (p.Gly47Trp) variant of AGXT (P21549)
G47W (p.Gly47Trp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements and structural context.
G47W (p.Gly47Trp) variant details
- p.Gly47Trp
- rs180177173
- ClinGen CA351313239
- ClinVar RCV002019332
- ExAC rs180177173
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.91
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 B: score 0.217