A44A (p.Ala44Ala) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A44A (p.Ala44Ala) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs1178309760
- gnomAD 1-55039969-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available