G18V (p.Gly18Val) variant of ORC1 (Q13415)
G18V (p.Gly18Val) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs1566121215
- gnomAD 13-40799058-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 26.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available