I55F (p.Ile55Phe) variant of ORC1 (Q13415)
I55F (p.Ile55Phe) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I55F (p.Ile55Phe) variant details
- p.Ile55Phe
- rs755209386
- gnomAD 13-40799224-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.79
- CADD 25.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available