L54V (p.Leu54Val) variant of ORC1 (Q13415)
L54V (p.Leu54Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- gnomAD 13-40799128-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.12
- CADD 15.90
- PolyPhen-2 0.10
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available