R72C (p.Arg72Cys) variant of SMC3 (Q9UQE7)
R72C (p.Arg72Cys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- gnomAD 10-110577436-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available