A30S (p.Ala30Ser) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30S (p.Ala30Ser) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 1-55039925-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.93
- CADD 13.70
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available