Q5Q (p.Gln5Gln) variant of SMC3 (Q9UQE7)
Q5Q (p.Gln5Gln) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q5Q (p.Gln5Gln) variant details
- p.Gln5Gln
- rs1860796238
- gnomAD 10-110567831-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available