N47N (p.Asn47Asn) variant of TBP (TATA-box-binding protein)
N47N (p.Asn47Asn) in TBP (TATA-box-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N47N (p.Asn47Asn) variant details
- p.Asn47Asn
- rs554594365
- gnomAD 6-170561877-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.37
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available