P11L (p.Pro11Leu) variant of AGXT (P21549)
P11L (p.Pro11Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs2106427293
- ClinGen CA2740096543
- ClinVar RCV003879411
- ClinGen CA2499215811
- Likely benign
- not specified; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in allele minor)
- UniProt: Likely benign (in allele minor)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.33)
- Structural context available
- AGXT complementation assay *1 b: score 0.728
- Cited in: Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the… (PMID 10960483)
- Cited in: Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. (PMID 15464418)