S6Y (p.Ser6Tyr) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
S6Y (p.Ser6Tyr) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S6Y (p.Ser6Tyr) variant details
- p.Ser6Tyr
- gnomAD 1-55039854-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.85
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available