I7T (p.Ile7Thr) variant of SMC3 (Q9UQE7)
I7T (p.Ile7Thr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I7T (p.Ile7Thr) variant details
- p.Ile7Thr
- gnomAD 10-110568942-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.80
- ESM-1b 0.00
- AlphaMissense 0.54
- CADD 24.20
- PolyPhen-2 0.54
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available