L19L (p.Leu19Leu) variant of SMARCB1 (Q12824)
L19L (p.Leu19Leu) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs977028798
- gnomAD 22-23787224-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.7
- Literature evidence available