I67R (p.Ile67Arg) variant of OTC (P00480)
I67R (p.Ile67Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
I67R (p.Ile67Arg) variant details
- p.Ile67Arg
- rs72554325
- ClinGen CA224498
- ClinVar RCV000083361
- Ensembl rs72554325
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.59
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.86
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available