T70S (p.Thr70Ser) variant of BAK1 (Q16611)
T70S (p.Thr70Ser) in BAK1 (Q16611) 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.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- ExAC rs747344615
- gnomAD rs747344615
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available