L6L (p.Leu6Leu) variant of SMARCB1 (Q12824)
L6L (p.Leu6Leu) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 22-23787185-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 13.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.346
- Literature evidence available