A30A (p.Ala30Ala) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A30A (p.Ala30Ala) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- rs1644585418
- gnomAD 1-55039927-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 8.73
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available