S14R (p.Ser14Arg) variant of HLA-A (P04439)
S14R (p.Ser14Arg) in HLA-A (P04439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD 6-29942592-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available