G23G (p.Gly23Gly) variant of SMARCB1 (Q12824)
G23G (p.Gly23Gly) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23G (p.Gly23Gly) variant details
- p.Gly23Gly
- rs769604673
- gnomAD 22-23787238-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 14.50
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.147
- Literature evidence available