L54F (p.Leu54Phe) variant of ORC1 (Q13415)
L54F (p.Leu54Phe) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- rs144656633
- gnomAD 13-40799140-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.17
- CADD 9.36
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available