E31E (p.Glu31Glu) variant of SMARCB1 (Q12824)
E31E (p.Glu31Glu) in SMARCB1 (Q12824) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E31E (p.Glu31Glu) variant details
- p.Glu31Glu
- gnomAD 22-23787262-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.533
- Literature evidence available