R16del (p.Arg16del) variant of LDLR (Low-density lipoprotein receptor)
R16del (p.Arg16del) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R16del (p.Arg16del) variant details
- rs1384060147
- gnomAD 19-11090639-GCGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 7.03
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available