I64F (p.Ile64Phe) variant of AGXT (P21549)
I64F (p.Ile64Phe) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
I64F (p.Ile64Phe) variant details
- p.Ile64Phe
- rs2528739981
- ClinGen CA351313398
- ClinVar RCV003445263
- ClinVar RCV003479520
- Conflicting interpretations
- not specified; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- ESM-1b 1.00
- AlphaMissense 0.48
- ClinVar: Conflicting classifications of pathogenicity (not specified; Primary hyperoxaluria, type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- AGXT complementation assay *1 b: score 0.923
- 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)