C35Y (p.Cys35Tyr) variant of ORC1 (Q13415)
C35Y (p.Cys35Tyr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- rs772613660
- gnomAD 13-40799069-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.59
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available