P28S (p.Pro28Ser) variant of AGXT (P21549)
P28S (p.Pro28Ser) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs376684240
- ClinGen CA2208976
- ClinVar RCV000670153
- ESP rs376684240
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.74
- ESM-1b 0.31
- AlphaMissense 0.43
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- AGXT complementation assay *2 b: score 0.0999
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)