T9N (p.Thr9Asn) variant of AGXT (P21549)
T9N (p.Thr9Asn) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/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 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T9N (p.Thr9Asn) variant details
- p.Thr9Asn
- rs115014558
- ClinGen CA275540
- ClinVar RCV000186218
- ClinVar RCV000314232
- Benign/Likely benign
- not specified; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 3.95
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Benign/Likely benign (not specified; not provided; Primary hyperoxaluria, type I)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- AGXT complementation assay *1 B: score 1.06
- Cited in: Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (PMID 15849466)
- Cited in: Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in… (PMID 15961946)