S48I (p.Ser48Ile) variant of TBP (TATA-box-binding protein)
S48I (p.Ser48Ile) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S48I (p.Ser48Ile) variant details
- p.Ser48Ile
- gnomAD 6-170561879-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available