A2G (p.Ala2Gly) variant of ORC1 (Q13415)
A2G (p.Ala2Gly) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs749585613
- gnomAD 13-40793279-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.54
- CADD 23.70
- PolyPhen-2 0.43
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available