E41K (p.Glu41Lys) variant of BAX (Apoptosis regulator BAX)
E41K (p.Glu41Lys) in BAX (Apoptosis regulator BAX) 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.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- cosmic curated COSV53169
- ExAC rs760328116
- TOPMed rs760328116
- gnomAD rs760328116
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.09
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available