S14* (p.Ser14Ter) variant of HLA-A (P04439)
S14* (p.Ser14Ter) in HLA-A (P04439) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
S14* (p.Ser14Ter) variant details
- p.Ser14Ter
- 1000Genomes rs2230954
- ESP rs2230954
- ExAC rs2230954
- gnomAD rs2230954
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 28.50
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available