G18E (p.Gly18Glu) variant of ORC1 (Q13415)
G18E (p.Gly18Glu) in ORC1 (Q13415) is a missense 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.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- rs1566121208
- gnomAD 13-40799057-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.88
- CADD 32.00
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Literature evidence available