Q25E (p.Gln25Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
Q25E (p.Gln25Glu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q25E (p.Gln25Glu) variant details
- p.Gln25Glu
- gnomAD rs1197724553
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -1.15
- CADD 26.30
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available