G68D (p.Gly68Asp) variant of SMC3 (Q9UQE7)
G68D (p.Gly68Asp) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- gnomAD 10-110577425-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available