E13Q (p.Glu13Gln) variant of BAK1 (Q16611)
E13Q (p.Glu13Gln) 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.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- TOPMed rs986407872
- gnomAD rs986407872
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.04
- CADD 18.90
- PolyPhen-2 0.09
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available