L45S (p.Leu45Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L45S (p.Leu45Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L45S (p.Leu45Ser) variant details
- p.Leu45Ser
- gnomAD rs1360032511
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.30
- MetaSVM -0.49
- CADD 24.50
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available