H261D (p.His261Asp) variant of AGXT (P21549)
H261D (p.His261Asp) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H261D (p.His261Asp) variant details
- p.His261Asp
- rs778567956
- ClinGen CA351318296
- ClinVar RCV000671808
- ClinVar RCV002532115
- Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; 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 *1 B: score 0.585
- 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)