R7G (p.Arg7Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R7G (p.Arg7Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- ExAC rs772165799
- gnomAD rs772165799
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.12
- MetaSVM -1.04
- CADD 6.53
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available