R9Q (p.Arg9Gln) variant of LDLR (Low-density lipoprotein receptor)
R9Q (p.Arg9Gln) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- gnomAD 19-11090644-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0463
- CADD 0.74
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available