E40G (p.Glu40Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
E40G (p.Glu40Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- gnomAD 1-55039956-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.20
- MetaSVM -0.92
- CADD 24.40
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available