D48E (p.Asp48Glu) variant of BAX (Apoptosis regulator BAX)
D48E (p.Asp48Glu) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- gnomAD 19-48955744-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.02
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available