C5L (p.Cys5Leu) variant of CD2 (T-cell surface antigen CD2)
C5L (p.Cys5Leu) in CD2 (T-cell surface antigen CD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C5L (p.Cys5Leu) variant details
- p.Cys5Leu
- gnomAD 1-116754505-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 16.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available