D35R (p.Asp35Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
D35R (p.Asp35Arg) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D35R (p.Asp35Arg) variant details
- p.Asp35Arg
- gnomAD 1-55039938-AGGACG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 23.80
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available