S40A (p.Ser40Ala) variant of CD3D (P04234)
S40A (p.Ser40Ala) in CD3D (P04234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- gnomAD 11-118340531-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available