A20V (p.Ala20Val) variant of TBP (TATA-box-binding protein)
A20V (p.Ala20Val) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ExAC rs758309293
- gnomAD rs758309293
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.07
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available