L71F (p.Leu71Phe) variant of ORC1 (Q13415)
L71F (p.Leu71Phe) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L71F (p.Leu71Phe) variant details
- p.Leu71Phe
- rs550585368
- gnomAD 13-40799242-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.64
- CADD 25.60
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available