L65L (p.Leu65Leu) variant of SMC3 (Q9UQE7)
L65L (p.Leu65Leu) in SMC3 (Q9UQE7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L65L (p.Leu65Leu) variant details
- p.Leu65Leu
- rs772652388
- gnomAD 10-110575398-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 12.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available