E48D (p.Glu48Asp) variant of BAK1 (Q16611)
E48D (p.Glu48Asp) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- ExAC rs769950150
- gnomAD rs769950150
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- CADD 19.40
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available