E20E (p.Glu20Glu) variant of SMARCB1 (Q12824)
E20E (p.Glu20Glu) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- gnomAD 22-23787229-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.169
- Literature evidence available