Y26Y (p.Tyr26Tyr) variant of SMARCB1 (Q12824)
Y26Y (p.Tyr26Tyr) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y26Y (p.Tyr26Tyr) variant details
- p.Tyr26Tyr
- rs374962941
- gnomAD 22-23787247-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 13.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.854
- Literature evidence available