E69del (p.Glu69del) variant of CD80 (P33681)
E69del (p.Glu69del) in CD80 (P33681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E69del (p.Glu69del) variant details
- gnomAD 3-119544760-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available