N5D (p.Asn5Asp) variant of TBP (TATA-box-binding protein)
N5D (p.Asn5Asp) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N5D (p.Asn5Asp) variant details
- p.Asn5Asp
- ExAC rs757450205
- gnomAD rs757450205
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available