M1T (p.Met1Thr) variant of AGXT (P21549)
M1T (p.Met1Thr) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AGXT-related disorder; Primary hyperoxaluria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs138584408
- ClinGen CA275613
- ClinVar RCV000186271
- ClinVar RCV001061218
- Pathogenic/Likely pathogenic
- AGXT-related disorder; Primary hyperoxaluria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.74
- MetaSVM 0.79
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (AGXT-related disorder; Primary hyperoxaluria; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary hyperoxaluria. (PMID 23944302)
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)