W30* (p.Trp30Ter) variant of BCL2 (Apoptosis regulator Bcl-2)
W30* (p.Trp30Ter) in BCL2 (Apoptosis regulator Bcl-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W30* (p.Trp30Ter) variant details
- p.Trp30Ter
- ExAC rs754418219
- gnomAD rs754418219
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available