A53H (p.Ala53His) variant of CD28 (P10747)
A53H (p.Ala53His) in CD28 (P10747) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A53H (p.Ala53His) variant details
- p.Ala53His
- gnomAD 2-203726734-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available