P11S (p.Pro11Ser) variant of AGXT (P21549)
P11S (p.Pro11Ser) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alanine glyoxylate aminotransferase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs375712696
- ClinGen CA2208968
- ClinVar RCV002958785
- ClinVar RCV005356229
- Uncertain significance
- Alanine glyoxylate aminotransferase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Alanine glyoxylate aminotransferase deficiency; not provided)
- EBI: Variant of uncertain significance (in allele minor)
- UniProt: Uncertain significance (in allele minor)
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available
- AGXT complementation assay *1 b: score 0.728