A11S (p.Ala11Ser) variant of TBP (TATA-box-binding protein)
A11S (p.Ala11Ser) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- gnomAD 6-170557060-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available