L260C (p.Leu260Cys) variant of HLA-DQB1 (P01920)
L260C (p.Leu260Cys) in HLA-DQB1 (P01920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L260C (p.Leu260Cys) variant details
- p.Leu260Cys
- gnomAD 6-32660244-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available