L45V (p.Leu45Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L45V (p.Leu45Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- gnomAD 1-55039970-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.77
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available