M195V (p.Met195Val) variant of AGXT (P21549)
M195V (p.Met195Val) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M195V (p.Met195Val) variant details
- p.Met195Val
- ExAC rs180177243
- TOPMed rs180177243
- gnomAD rs180177243
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 21.60
- PolyPhen-2 0.48
- SIFT 0.08
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.973