P11R (p.Pro11Arg) variant of AGXT (P21549)
P11R (p.Pro11Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of AGXT-related disorder; Inborn genetic diseases; Primary hyperoxaluria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- rs34116584
- ClinGen CA275621
- ClinVar RCV000186275
- ClinVar RCV001553704
- Conflicting interpretations
- AGXT-related disorder; Inborn genetic diseases; Primary hyperoxaluria
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (AGXT-related disorder; Inborn genetic diseases; Primary hyperoxa)
- EBI: Pathogenic (in allele minor)
- UniProt: Pathogenic (in allele minor)
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- AGXT complementation assay *1 b: score 0.728
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)