G57S (p.Gly57Ser) variant of ORC1 (Q13415)
G57S (p.Gly57Ser) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- rs1206371362
- gnomAD 13-40799176-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.87
- CADD 29.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available