T18K (p.Thr18Lys) variant of SMC3 (Q9UQE7)
T18K (p.Thr18Lys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T18K (p.Thr18Lys) variant details
- p.Thr18Lys
- gnomAD 10-110568975-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available