Y44Y (p.Tyr44Tyr) variant of SMARCB1 (Q12824)
Y44Y (p.Tyr44Tyr) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y44Y (p.Tyr44Tyr) variant details
- p.Tyr44Tyr
- rs370334151
- gnomAD 22-23791794-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 13.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.217
- Literature evidence available