S81L (p.Ser81Leu) variant of AGXT (P21549)
S81L (p.Ser81Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Primary hyperoxaluria; not provided. 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.
S81L (p.Ser81Leu) variant details
- p.Ser81Leu
- rs180177184
- ClinGen CA275652
- ClinVar RCV000186289
- ClinVar RCV001386863
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.93
- MetaSVM 1.09
- CADD 24.70
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Primary hyperoxaluria; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.606
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)