R26P (p.Arg26Pro) variant of OTC (P00480)
R26P (p.Arg26Pro) 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 0.62 / 1. The record also includes structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- rs68031618
- ClinGen CA224780
- ClinVar RCV000083566
- 1000Genomes rs68031618
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.64
- PolyPhen-2 0.12
- SIFT 0.12
- MutPred 0.86
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available