L62W (p.Leu62Trp) variant of SMC3 (Q9UQE7)
L62W (p.Leu62Trp) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L62W (p.Leu62Trp) variant details
- p.Leu62Trp
- gnomAD 10-110575390-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available