P10S (p.Pro10Ser) variant of AGXT (P21549)
P10S (p.Pro10Ser) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- rs180177191
- ClinGen CA275619
- ClinVar RCV000186274
- 1000Genomes rs180177191
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 22.10
- PolyPhen-2 0.67
- SIFT 0.04
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- AGXT complementation assay *1 B: score 1.15
- 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)