N47S (p.Asn47Ser) variant of TBP (TATA-box-binding protein)
N47S (p.Asn47Ser) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- ExAC rs772344160
- TOPMed rs772344160
- gnomAD rs772344160
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.26
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available