G50R (p.Gly50Arg) variant of ORC1 (Q13415)
G50R (p.Gly50Arg) 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.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- gnomAD 13-40799137-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.85
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available