Y47Y (p.Tyr47Tyr) variant of SMARCB1 (Q12824)
Y47Y (p.Tyr47Tyr) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y47Y (p.Tyr47Tyr) variant details
- p.Tyr47Tyr
- rs1601388576
- gnomAD 22-23791803-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 9.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.401
- Literature evidence available