Q36* (p.Gln36Ter) variant of OTC (P00480)
Q36* (p.Gln36Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs72554305
- ClinGen CA224451
- ClinVar RCV000083330
- ExAC rs72554305
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.08
- MetaLR 0.80
- MetaSVM 0.24
- PolyPhen-2 0.00
- SIFT 0.41
- MutPred 0.36
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available