M28W (p.Met28Trp) variant of CD28 (P10747)
M28W (p.Met28Trp) in CD28 (P10747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M28W (p.Met28Trp) variant details
- p.Met28Trp
- rs769766350
- gnomAD 2-203706565-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 7.86
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available