S76* (p.Ser76Ter) variant of ORC1 (Q13415)
S76* (p.Ser76Ter) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S76* (p.Ser76Ter) variant details
- p.Ser76Ter
- rs2138045987
- gnomAD 13-40799237-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 37.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available