D57E (p.Asp57Glu) variant of BAK1 (Q16611)
D57E (p.Asp57Glu) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- TOPMed rs1762835642
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- CADD 18.50
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available