D34M (p.Asp34Met) variant of BCL2 (Apoptosis regulator Bcl-2)
D34M (p.Asp34Met) in BCL2 (Apoptosis regulator Bcl-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D34M (p.Asp34Met) variant details
- p.Asp34Met
- rs759748900
- gnomAD 18-63318567-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available