C41Y (p.Cys41Tyr) variant of ORC1 (Q13415)
C41Y (p.Cys41Tyr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C41Y (p.Cys41Tyr) variant details
- p.Cys41Tyr
- rs758838019
- gnomAD 13-40799150-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.79
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available