E24E (p.Glu24Glu) variant of SMARCB1 (Q12824)
E24E (p.Glu24Glu) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E24E (p.Glu24Glu) variant details
- p.Glu24Glu
- gnomAD 22-23787241-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 9.07
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.793
- Literature evidence available