K67E (p.Lys67Glu) variant of ORC1 (Q13415)
K67E (p.Lys67Glu) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K67E (p.Lys67Glu) variant details
- p.Lys67Glu
- rs1330537054
- gnomAD 13-40799194-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available