I52I (p.Ile52Ile) variant of SPTBN4 (Q9H254)
I52I (p.Ile52Ile) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I52I (p.Ile52Ile) variant details
- p.Ile52Ile
- gnomAD 19-40472777-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 11.20
- Population evidence available
- Structural context available
- Literature evidence available