F17F (p.Phe17Phe) variant of SMARCB1 (Q12824)
F17F (p.Phe17Phe) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F17F (p.Phe17Phe) variant details
- p.Phe17Phe
- gnomAD 22-23787220-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 15.30
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.663
- Literature evidence available