E73D (p.Glu73Asp) variant of ORC1 (Q13415)
E73D (p.Glu73Asp) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E73D (p.Glu73Asp) variant details
- p.Glu73Asp
- rs778193187
- gnomAD 13-40799232-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.70
- CADD 24.20
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available