S6R (p.Ser6Arg) variant of TBP (TATA-box-binding protein)
S6R (p.Ser6Arg) in TBP (TATA-box-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- ExAC rs766191843
- gnomAD rs766191843
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.21
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available