R9G (p.Arg9Gly) variant of LDLR (Low-density lipoprotein receptor)
R9G (p.Arg9Gly) in LDLR (Low-density lipoprotein receptor) is a missense 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.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 19-11090604-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 7.43
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available