C40C (p.Cys40Cys) variant of CD28 (P10747)
C40C (p.Cys40Cys) in CD28 (P10747) is a synonymous 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.
C40C (p.Cys40Cys) variant details
- p.Cys40Cys
- rs1199334347
- gnomAD 2-203706532-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 14.30
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available