E16Q (p.Glu16Gln) variant of BAK1 (Q16611)
E16Q (p.Glu16Gln) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- ExAC rs773859939
- TOPMed rs773859939
- gnomAD rs773859939
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available