Y38* (p.Tyr38Ter) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Y38* (p.Tyr38Ter) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) 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.
Y38* (p.Tyr38Ter) variant details
- p.Tyr38Ter
- gnomAD 1-55039951-C-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available