L54R (p.Leu54Arg) variant of ORC1 (Q13415)
L54R (p.Leu54Arg) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L54R (p.Leu54Arg) variant details
- p.Leu54Arg
- rs1451525627
- gnomAD 13-40799129-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.52
- CADD 23.60
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available