Q78* (p.Gln78Ter) variant of OTC (P00480)
Q78* (p.Gln78Ter) 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 0.65 / 1. The record also includes population frequency data and structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs72554330
- ClinGen CA224509
- ClinVar RCV000083368
- ClinVar RCV005887682
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available