S6N (p.Ser6Asn) variant of TBP (TATA-box-binding protein)
S6N (p.Ser6Asn) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- gnomAD 6-170557046-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.27
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available