L49I (p.Leu49Ile) variant of SMC3 (Q9UQE7)
L49I (p.Leu49Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L49I (p.Leu49Ile) variant details
- p.Leu49Ile
- gnomAD 10-110575350-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available