N22S (p.Asn22Ser) variant of AGXT (P21549)
N22S (p.Asn22Ser) 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 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- rs34885252
- ClinGen CA275548
- ClinVar RCV000186222
- ClinVar RCV000280164
- Benign/Likely benign
- not specified; not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Benign/Likely benign (not specified; not provided; Primary hyperoxaluria, type I)
- EBI: Benign (in dbSNP:rs34885252)
- UniProt: Benign (in dbSNP:rs34885252)
- Most common in the HGDP:OROQEN population (allele frequency 0.19)
- Structural context available
- AGXT complementation assay *1 B: score 1.04
- 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)