S76R (p.Ser76Arg) variant of ORC1 (Q13415)
S76R (p.Ser76Arg) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S76R (p.Ser76Arg) variant details
- p.Ser76Arg
- rs774319330
- gnomAD 13-40799205-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.56
- CADD 17.70
- PolyPhen-2 0.56
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available