P54R (p.Pro54Arg) variant of CD276 (CD276 antigen)
P54R (p.Pro54Arg) in CD276 (CD276 antigen) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- rs770961285
- gnomAD 15-73702335-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 22.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available