G18R (p.Gly18Arg) variant of ORC1 (Q13415)
G18R (p.Gly18Arg) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs2138039631
- gnomAD 13-40793272-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.87
- CADD 25.10
- 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