K209N (p.Lys209Asn) variant of AGXT (P21549)
K209N (p.Lys209Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K209N (p.Lys209Asn) variant details
- p.Lys209Asn
- rs1242267009
- ClinGen CA351316875
- ClinVar RCV003468705
- gnomAD rs1242267009
- Likely pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- AGXT complementation assay *2 B: score 0.0143
- 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)