E13K (p.Glu13Lys) variant of BAK1 (Q16611)
E13K (p.Glu13Lys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- TOPMed rs986407872
- gnomAD rs986407872
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available