L11C (p.Leu11Cys) variant of HLA-A (P04439)
L11C (p.Leu11Cys) in HLA-A (P04439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L11C (p.Leu11Cys) variant details
- p.Leu11Cys
- gnomAD 6-29942582-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available