R26G (p.Arg26Gly) variant of LDLR (Low-density lipoprotein receptor)
R26G (p.Arg26Gly) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- gnomAD 19-11090657-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.04
- Population evidence available
- Structural context available
- Literature evidence available