F39F (p.Phe39Phe) variant of SMARCB1 (Q12824)
F39F (p.Phe39Phe) 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.
F39F (p.Phe39Phe) variant details
- p.Phe39Phe
- rs757517233
- gnomAD 22-23791779-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 13.10
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.797
- Literature evidence available