G50V (p.Gly50Val) variant of ORC1 (Q13415)
G50V (p.Gly50Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 13-40799138-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available