N5S (p.Asn5Ser) variant of TBP (TATA-box-binding protein)
N5S (p.Asn5Ser) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- gnomAD 6-170557043-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available