A30G (p.Ala30Gly) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30G (p.Ala30Gly) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- gnomAD rs958750957
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.60
- CADD 18.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available