P11H (p.Pro11His) variant of AGXT (P21549)
P11H (p.Pro11His) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Alanine glyoxylate aminotransferase deficiency; not provided; Primary hyperoxalu. 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.
P11H (p.Pro11His) variant details
- p.Pro11His
- rs34116584
- ClinGen CA275544
- ClinVar RCV000186220
- ClinVar RCV000884267
- Conflicting interpretations
- Alanine glyoxylate aminotransferase deficiency; not provided; Primary hyperoxalu
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alanine glyoxylate aminotransferase deficiency; not provided; Pr)
- EBI: Pathogenic (in allele minor)
- UniProt: Pathogenic (in allele minor)
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- AGXT complementation assay *1 b: score 0.728
- 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)