P34A (p.Pro34Ala) variant of AGXT (P21549)
P34A (p.Pro34Ala) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- ExAC rs758388293
- TOPMed rs758388293
- gnomAD rs758388293
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- AGXT complementation assay *1 B: score 0.652