G68S (p.Gly68Ser) variant of SMC3 (Q9UQE7)
G68S (p.Gly68Ser) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- gnomAD 10-110577424-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available