S9Y (p.Ser9Tyr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S9Y (p.Ser9Tyr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- gnomAD 1-55039863-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- ESM-1b 0.88
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -1.03
- CADD 5.35
- Population evidence available
- Structural context available
- Literature evidence available