L48V (p.Leu48Val) variant of CD276 (CD276 antigen)
L48V (p.Leu48Val) in CD276 (CD276 antigen) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- gnomAD 15-73702316-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available