G68A (p.Gly68Ala) variant of SMC3 (Q9UQE7)
G68A (p.Gly68Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G68A (p.Gly68Ala) variant details
- p.Gly68Ala
- gnomAD 10-110577425-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available