Q29* (p.Gln29Ter) variant of ORC1 (Q13415)
Q29* (p.Gln29Ter) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs1448259297
- gnomAD 13-40793248-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available