V53W (p.Val53Trp) variant of ORC1 (Q13415)
V53W (p.Val53Trp) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V53W (p.Val53Trp) variant details
- p.Val53Trp
- rs1881780569
- gnomAD 13-40799171-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available