A28S (p.Ala28Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A28S (p.Ala28Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -1.05
- CADD 4.34
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available