G41A (p.Gly41Ala) variant of AGXT (P21549)
G41A (p.Gly41Ala) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- TOPMed rs180177168
- gnomAD rs180177168
- Pathogenic
- in HP1
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Structural context available
- AGXT complementation assay *1 B: score 0.492