I8V (p.Ile8Val) variant of SMC3 (Q9UQE7)
I8V (p.Ile8Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- gnomAD 10-110568944-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 25.90
- PolyPhen-2 0.69
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available