A20G (p.Ala20Gly) variant of TBP (TATA-box-binding protein)
A20G (p.Ala20Gly) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 6-170561795-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available