P10T (p.Pro10Thr) variant of AGXT (P21549)
P10T (p.Pro10Thr) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- 1000Genomes rs180177191
- ESP rs180177191
- ExAC rs180177191
- TOPMed rs180177191
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 22.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- AGXT complementation assay *1 B: score 1.15