V42M (p.Val42Met) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
V42M (p.Val42Met) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- gnomAD 1-55039961-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.15
- MetaSVM -0.99
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available