M195R (p.Met195Arg) variant of AGXT (P21549)
M195R (p.Met195Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M195R (p.Met195Arg) variant details
- p.Met195Arg
- rs180177244
- ClinGen CA275712
- ClinVar RCV000186319
- ClinVar RCV001036463
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.973
- Cited in: Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in… (PMID 15961946)
- Cited in: Gene symbol: AGXT. Disease: primary hyperoxaluria type I. (PMID 10394939)