Y43L (p.Tyr43Leu) variant of SMC3 (Q9UQE7)
Y43L (p.Tyr43Leu) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y43L (p.Tyr43Leu) variant details
- p.Tyr43Leu
- gnomAD 10-110573735-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available