T18I (p.Thr18Ile) variant of SMC3 (Q9UQE7)
T18I (p.Thr18Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- gnomAD 10-110568975-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 27.90
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available