D201N (p.Asp201Asn) variant of AGXT (P21549)
D201N (p.Asp201Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D201N (p.Asp201Asn) variant details
- p.Asp201Asn
- rs886055840
- ClinGen CA10612912
- ClinVar RCV000268109
- ClinVar RCV002519959
- Conflicting interpretations
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Primary hyperoxaluria, type I)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- AGXT complementation assay *2 b: score 0.131
- 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)