P34T (p.Pro34Thr) variant of AGXT (P21549)
P34T (p.Pro34Thr) 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 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- ExAC rs758388293
- TOPMed rs758388293
- gnomAD rs758388293
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.9e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.652