T43I (p.Thr43Ile) variant of ORC1 (Q13415)
T43I (p.Thr43Ile) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- gnomAD 13-40799162-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.42
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available