F52D (p.Phe52Asp) variant of ORC1 (Q13415)
F52D (p.Phe52Asp) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F52D (p.Phe52Asp) variant details
- p.Phe52Asp
- rs756522093
- gnomAD 13-40799112-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available