L22I (p.Leu22Ile) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L22I (p.Leu22Ile) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L22I (p.Leu22Ile) variant details
- p.Leu22Ile
- gnomAD 1-55039901-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.81
- CADD 11.80
- Population evidence available
- Structural context available
- Literature evidence available