R9* (p.Arg9Ter) variant of LDLR (Low-density lipoprotein receptor)
R9* (p.Arg9Ter) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R9* (p.Arg9Ter) variant details
- p.Arg9Ter
- gnomAD 19-11090643-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.99
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available