Y43M (p.Tyr43Met) variant of SMC3 (Q9UQE7)
Y43M (p.Tyr43Met) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y43M (p.Tyr43Met) variant details
- p.Tyr43Met
- rs1466680694
- gnomAD 10-110573735-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available