L56L (p.Leu56Leu) variant of SMC3 (Q9UQE7)
L56L (p.Leu56Leu) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- rs1459624851
- gnomAD 10-110575373-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 10.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available