C40S (p.Cys40Ser) variant of CD28 (P10747)
C40S (p.Cys40Ser) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C40S (p.Cys40Ser) variant details
- p.Cys40Ser
- gnomAD 2-203706531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 17.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available