S218L (p.Ser218Leu) variant of AGXT (P21549)
S218L (p.Ser218Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S218L (p.Ser218Leu) variant details
- p.Ser218Leu
- rs180177253
- ClinGen CA274210
- ClinVar RCV000169358
- ClinVar RCV001386996
- Pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.76
- MetaSVM 0.92
- CADD 23.00
- ClinVar: Pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.199
- Cited in: The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated… (PMID 15963748)
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)