D10V (p.Asp10Val) variant of BCL2 (Apoptosis regulator Bcl-2)
D10V (p.Asp10Val) in BCL2 (Apoptosis regulator Bcl-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
D10V (p.Asp10Val) variant details
- p.Asp10Val
- gnomAD 18-63318637-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available