G18D (p.Gly18Asp) variant of ORC1 (Q13415)
G18D (p.Gly18Asp) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD 13-40799060-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.85
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available