E46K (p.Glu46Lys) variant of BAK1 (Q16611)
E46K (p.Glu46Lys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- TOPMed rs959610391
- gnomAD rs959610391
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.14
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available