F82L (p.Phe82Leu) variant of SMC3 (Q9UQE7)
F82L (p.Phe82Leu) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
F82L (p.Phe82Leu) variant details
- p.Phe82Leu
- gnomAD 10-110577463-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available