L54L (p.Leu54Leu) variant of ORC1 (Q13415)
L54L (p.Leu54Leu) in ORC1 (Q13415) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- gnomAD 13-40799128-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 9.15
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available