P11T (p.Pro11Thr) variant of AGXT (P21549)
P11T (p.Pro11Thr) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in allele minor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- ESP rs375712696
- ExAC rs375712696
- TOPMed rs375712696
- gnomAD rs375712696
- Uncertain significance
- in allele minor
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance (in allele minor)
- UniProt: Uncertain significance (in allele minor)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.728