R9L (p.Arg9Leu) variant of LDLR (Low-density lipoprotein receptor)
R9L (p.Arg9Leu) 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.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- rs758004591
- gnomAD 19-11090644-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0452
- CADD 0.60
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available