G36R (p.Gly36Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
G36R (p.Gly36Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- gnomAD 1-55039943-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.90
- CADD 14.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available