Q5R (p.Gln5Arg) variant of SMC3 (Q9UQE7)
Q5R (p.Gln5Arg) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD 10-110567828-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 28.10
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Literature evidence available