I28I (p.Ile28Ile) variant of SMARCB1 (Q12824)
I28I (p.Ile28Ile) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I28I (p.Ile28Ile) variant details
- p.Ile28Ile
- gnomAD 22-23787253-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 16.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.986
- Literature evidence available