R29V (p.Arg29Val) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
R29V (p.Arg29Val) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R29V (p.Arg29Val) variant details
- p.Arg29Val
- rs1553135406
- gnomAD 1-55039919-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available