D34E (p.Asp34Glu) variant of BCL2 (Apoptosis regulator Bcl-2)
D34E (p.Asp34Glu) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D34E (p.Asp34Glu) variant details
- p.Asp34Glu
- cosmic curated COSV61398
- ExAC rs762137430
- gnomAD rs762137430
- Missense
- Variant Prioritization Score for Impact Estimate 0.061
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.91
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available