G57T (p.Gly57Thr) variant of ORC1 (Q13415)
G57T (p.Gly57Thr) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G57T (p.Gly57Thr) variant details
- p.Gly57Thr
- rs1324907002
- gnomAD 13-40799174-T-TTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 28.50
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available