M195L (p.Met195Leu) variant of AGXT (P21549)
M195L (p.Met195Leu) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M195L (p.Met195Leu) variant details
- p.Met195Leu
- rs180177243
- ClinGen CA275710
- ClinVar RCV000186318
- ExAC rs180177243
- Pathogenic
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.75
- ESM-1b 0.96
- AlphaMissense 0.31
- CADD 18.80
- PolyPhen-2 0.33
- SIFT 0.15
- ClinVar: Pathogenic (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.973
- 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)