L9S (p.Leu9Ser) variant of HLA-A (P04439)
L9S (p.Leu9Ser) 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.
L9S (p.Leu9Ser) variant details
- p.Leu9Ser
- gnomAD 6-29942575-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 18.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available