G63S (p.Gly63Ser) variant of AGXT (P21549)
G63S (p.Gly63Ser) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- Ensembl rs180177181
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- ESM-1b 1.00
- AlphaMissense 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AGXT complementation assay *1 B: score 0.634