L41V (p.Leu41Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L41V (p.Leu41Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- ExAC rs770290145
- gnomAD rs770290145
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.91
- CADD 18.60
- Population evidence available
- Structural context available